Letter to the Editor
Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test
Síndrome de Andersen-Tawil con fenotipo sexo-específico: utilidad del test de ejercicio largo
Read
1830
Timeswas read the article
567
Total PDF
1263
Total HTML
Share statistics
array:25 [ "pii" => "S2173580820301954" "issn" => "21735808" "doi" => "10.1016/j.nrleng.2019.09.007" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "1358" "copyright" => "Sociedad Española de Neurología" "copyrightAnyo" => "2019" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Neurologia. 2020;35:675-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:20 [ "pii" => "S0213485319301306" "issn" => "02134853" "doi" => "10.1016/j.nrl.2019.09.005" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "1358" "copyright" => "Sociedad Española de Neurología" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Neurologia. 2020;35:675-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 20 "formatos" => array:2 [ "EPUB" => 2 "PDF" => 18 ] ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta al Editor</span>" "titulo" => "Síndrome de Andersen-Tawil con fenotipo sexo-específico: utilidad del test de ejercicio largo" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "675" "paginaFinal" => "676" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Andersen-Tawil syndrome with sex-specific phenotype: Usefulness of the long exercise test" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 811 "Ancho" => 2133 "Tamanyo" => 137148 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Test de ejercicio largo registrando en músculo abductor del V dedo. A) Gráfica que muestra la evolución del área del CMAP. B) Diferentes CMAP obtenidos durante el test. Sensibilidad 10<span class="elsevierStyleHsp" style=""></span>mV, barrido 50<span class="elsevierStyleHsp" style=""></span>mseg e intensidad de estímulo 27<span class="elsevierStyleHsp" style=""></span>mA.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "S. Parra, D. Leal, R. Vilar, M. Mateo, J. Melero" "autores" => array:5 [ 0 => array:2 [ "nombre" => "S." "apellidos" => "Parra" ] 1 => array:2 [ "nombre" => "D." "apellidos" => "Leal" ] 2 => array:2 [ "nombre" => "R." "apellidos" => "Vilar" ] 3 => array:2 [ "nombre" => "M." "apellidos" => "Mateo" ] 4 => array:2 [ "nombre" => "J." "apellidos" => "Melero" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2173580820301954" "doi" => "10.1016/j.nrleng.2019.09.007" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580820301954?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0213485319301306?idApp=UINPBA00004N" "url" => "/02134853/0000003500000009/v1_202011170721/S0213485319301306/v1_202011170721/es/main.assets" ] ] "itemSiguiente" => array:20 [ "pii" => "S2173580820301899" "issn" => "21735808" "doi" => "10.1016/j.nrleng.2019.09.005" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "1361" "copyright" => "Sociedad Española de Neurología" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Neurologia. 2020;35:677-8" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Paraneoplastic opsoclonus-myoclonus syndrome in a patient with oesophageal adenocarcinoma" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "677" "paginaFinal" => "678" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome opsoclono-mioclono paraneoplásico en paciente con adenocarcinoma de esófago" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "J.A. Del Valle Pérez, I. Redondo Peñas, A. Layos Romero, T. Segura" "autores" => array:4 [ 0 => array:2 [ "nombre" => "J.A." "apellidos" => "Del Valle Pérez" ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Redondo Peñas" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Layos Romero" ] 3 => array:2 [ "nombre" => "T." "apellidos" => "Segura" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0213485319301331" "doi" => "10.1016/j.nrl.2019.09.008" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0213485319301331?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580820301899?idApp=UINPBA00004N" "url" => "/21735808/0000003500000009/v2_202205160514/S2173580820301899/v2_202205160514/en/main.assets" ] "itemAnterior" => array:20 [ "pii" => "S2173580820302054" "issn" => "21735808" "doi" => "10.1016/j.nrleng.2020.10.001" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "1356" "copyright" => "Sociedad Española de Neurología" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Neurologia. 2020;35:674-5" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Eye involvement in patients with myotonic dystrophy" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "674" "paginaFinal" => "675" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Implicación ocular en pacientes con distrofia miotónica" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "L. Vitiello, L. Politano, M. De Bernardo, N. Rosa" "autores" => array:4 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Vitiello" ] 1 => array:2 [ "nombre" => "L." "apellidos" => "Politano" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "De Bernardo" ] 3 => array:2 [ "nombre" => "N." "apellidos" => "Rosa" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0213485319301288" "doi" => "10.1016/j.nrl.2019.10.004" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0213485319301288?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580820302054?idApp=UINPBA00004N" "url" => "/21735808/0000003500000009/v2_202205160514/S2173580820302054/v2_202205160514/en/main.assets" ] "en" => array:16 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "675" "paginaFinal" => "676" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "S. Parra, D. Leal, R. Vilar, M. Mateo, J. Melero" "autores" => array:5 [ 0 => array:4 [ "nombre" => "S." "apellidos" => "Parra" "email" => array:1 [ 0 => "parra_sil@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "D." "apellidos" => "Leal" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "Vilar" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "M." "apellidos" => "Mateo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "J." "apellidos" => "Melero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Neurofisiología Clínica, Hospital General Universitario de Castellón, Castellón, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Neurología, Hospital General Universitario de Castellón, Castellón, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Cardiología, Hospital General Universitario de Castellón, Castellón, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Andersen-Tawil con fenotipo sexo-específico: utilidad del test de ejercicio largo" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 811 "Ancho" => 2133 "Tamanyo" => 137148 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Long exercise test of the abductor digiti minimi muscle. A) Graphical representation of the progression of the CMAP area. B) Different CMAPs obtained during the test. Sensitivity 10 mV, sweep 50 ms, stimulus intensity 27 mA.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Andersen-Tawil syndrome is a clinical entity characterised by periodic paralysis, distinctive physical features, and electrocardiographic alterations. This rare disease is frequently difficult to diagnose; the long exercise test may be useful in differential diagnosis including other muscle channelopathies.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–7</span></a> Several alterations have been described in the <span class="elsevierStyleItalic">KCNJ2</span> gene, which encodes an inwardly rectifying potassium protein of the muscle membrane. We present the case of a family with the R67W mutation of <span class="elsevierStyleItalic">KCNJ2</span>.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Our patient was a 39-year-old man who began to present episodes of generalised weakness at the age of 7-8 years; episodes lasted approximately 2 weeks, during which the patient was unable to leave his bed. Until the age of 25, episodes were frequent (presenting every month) and were exacerbated by carbohydrate and alcohol consumption, intense exercise, and rest after exercise. Such foods as bananas and potatoes did not trigger the episodes. Elevated serum potassium levels were detected at onset of the disease, leading to a diagnosis of hyperkalaemic periodic paralysis. As the disease progressed, episodes became less frequent, and some were associated with normal or even low potassium levels. The patient was referred to the neurophysiology department for evaluation due to mild generalised weakness of several months’ progression. He presented elevated CPK levels at admission (1325 U/mL). We performed a neurophysiological study including the short and long exercise tests, according to the protocol described by Fournier et al.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The short exercise test was performed 3 times, with a 1-minute rest period between trials; results were normal. The long exercise test revealed a baseline amplitude of 10.7 mV, with a marked increase (197%) in the area of the compound muscle action potential (CMAP) after effort, followed by a progressive decrease until a minimum value of 21% was reached at 45 minutes (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Repetitive stimulation yielded normal results. The clinical progression, neurophysiological findings, and mild but characteristic phenotype (short stature, hypertelorism, micrognathia, and clinodactyly) observed in our patient led us to suspect Andersen-Tawil syndrome. The ECG revealed no ventricular arrhythmia; QT interval was within normal values. A genetic study detected a heterozygous mutation in the <span class="elsevierStyleItalic">KCNJ2</span> gene (nucleotide change 199C > T, resulting in the substitution of arginine for tryptophan [R67W]). A genetic study of the patient’s relatives detected the mutation in his mother, but not in his sister (the only sibling). Our patient’s mother underwent the long exercise test, with normal results. She presented the same dysmorphic features as her son and ventricular extrasystoles, but had no muscle symptoms.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Muscle channelopathies are rare diseases whose diagnosis is often challenging. In many cases, clinical symptoms are not sufficient to determine the type of muscle channelopathy, particularly when physicians are not familiar with this group of disorders; Andersen-Tawil syndrome is associated with mild phenotypes (some patients may even display no dysmorphic features). Potassium levels may be misleading, as in the case presented here, and genetic studies are costly. The long exercise test is easy to perform and may contribute valuable diagnostic data. Several patterns have been described,<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–7</span></a> with the most frequent finding being a decrease of over 40% in CMAP; this finding was also observed in our patient and was key to diagnosis. Our patient displayed a marked increase in CMAP after prolonged effort, followed by a progressive decrease. In 2016, Song et al.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> described 12 patients with Andersen-Tawil syndrome who displayed 4 different patterns in the long exercise test; one pattern was characterised by a marked increase in CMAP amplitude during exercise, followed by a rapid decrease after exercise. Tan et al.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> and Díaz-Manera et al.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> described a slow decrease in CMAP after prolonged muscle contraction, without a significant increase in CMAP during the test. The pattern observed in our patient has not previously been described in the literature. Although our patient’s results in the short exercise test were normal, some patients with Andersen-Tawil syndrome have shown alterations in both the short and the long exercise test.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Several mutations in the <span class="elsevierStyleItalic">KCNJ2</span> gene have been described to date. Mutation R67W had previously been detected in a large cohort<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> and was associated with a sex-specific phenotype, with muscle weakness and no cardiac alterations in men, and cardiac alterations but no muscle weakness in women; however, these patients did not perform the long exercise test. We hypothesised that our patient’s mother may have had subclinical muscle alterations, but the long exercise test yielded normal results.</p><p id="par0025" class="elsevierStylePara elsevierViewall">In the case presented here, the test was extremely useful for 2 reasons: it guided diagnosis before the genetic study was conducted, and it provided objective data to further support the association between sex and phenotype in patients with Andersen-Tawil syndrome and the R67W mutation.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This study has received no public or private funding.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Parra S, Leal D, Vilar R, Mateo M, Melero J. Síndrome de Andersen-Tawil con fenotipo sexo-específico: utilidad del test de ejercicio largo. Nefrologia. 2020;35:675–676.</p>" ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 811 "Ancho" => 2133 "Tamanyo" => 137148 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Long exercise test of the abductor digiti minimi muscle. A) Graphical representation of the progression of the CMAP area. B) Different CMAPs obtained during the test. Sensitivity 10 mV, sweep 50 ms, stimulus intensity 27 mA.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Electromyography guides toward subgroups of mutations in muscle channelopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "E. Fournier" 1 => "M. Arzel" 2 => "D. Sternberg" 3 => "S. Vicart" 4 => "P. Laforet" 5 => "B. Eymard" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ana.20241" "Revista" => array:6 [ "tituloSerie" => "Ann Neurol" "fecha" => "2004" "volumen" => "56" "paginaInicial" => "650" "paginaFinal" => "661" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15389891" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The exercise test in Andersen syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "J.S. Katz" 1 => "G.I. Wolfe" 2 => "S. Iannaccone" 3 => "W.W. Bryan" 4 => "R.J. Barohn" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Arch Neuro" "fecha" => "1999" "volumen" => "56" "paginaInicial" => "352" "paginaFinal" => "356" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J. Song" 1 => "S. Luo" 2 => "X. Cheng" 3 => "D. Yue" 4 => "W. Zhu" 5 => "J. Lin" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/mus.25169" "Revista" => array:6 [ "tituloSerie" => "Muscle Nerve" "fecha" => "2016" "volumen" => "54" "paginaInicial" => "1059" "paginaFinal" => "1063" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27145478" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "S.V. Tan" 1 => "E. Matthews" 2 => "M. Barber" 3 => "J.A. Burge" 4 => "S. Rajakulendran" 5 => "D. Fialho" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Ann Neuro" "fecha" => "2011" "volumen" => "69" "paginaInicial" => "328" "paginaFinal" => "340" ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "J. Díaz-Manera" 1 => "L. Querol" 2 => "J. Clarimón" 3 => "S. Yagüe" 4 => "I. Illa" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Clin Neurophysio." "fecha" => "2011" "volumen" => "122" "paginaInicial" => "2537" "paginaFinal" => "2539" ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Long exercise test in periodic paralysis: a Bayesian analysis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D.B. Simmons" 1 => "J. Lanning" 2 => "J.C. Cleland" 3 => "A. Puwanant" 4 => "P.T. Twydell" 5 => "R.C. Griggs" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/mus.26157" "Revista" => array:6 [ "tituloSerie" => "Muscle Nerve" "fecha" => "2019" "volumen" => "59" "paginaInicial" => "47" "paginaFinal" => "54" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29752813" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Looking for periodic paralysis: optimizing the long exercise test" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "B.E. Shapiro" 1 => "D.C. Preston" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/mus.26314" "Revista" => array:6 [ "tituloSerie" => "Muscle Nerve" "fecha" => "2019" "volumen" => "59" "paginaInicial" => "8" "paginaFinal" => "9" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30071152" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "G. Andelfinger" 1 => "A.R. Tapper" 2 => "R.C. Welch" 3 => "C.G. Vanoye" 4 => "A.L. George Jr" 5 => "D.W. Benson" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/342360" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "2002" "volumen" => "71" "paginaInicial" => "663" "paginaFinal" => "668" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12148092" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/21735808/0000003500000009/v2_202205160514/S2173580820301954/v2_202205160514/en/main.assets" "Apartado" => array:4 [ "identificador" => "9409" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735808/0000003500000009/v2_202205160514/S2173580820301954/v2_202205160514/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173580820301954?idApp=UINPBA00004N" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 8 | 15 |
| 2024 October | 28 | 8 | 36 |
| 2024 September | 51 | 15 | 66 |
| 2024 August | 51 | 5 | 56 |
| 2024 July | 46 | 7 | 53 |
| 2024 June | 24 | 9 | 33 |
| 2024 May | 29 | 10 | 39 |
| 2024 April | 38 | 4 | 42 |
| 2024 March | 39 | 10 | 49 |
| 2024 February | 30 | 4 | 34 |
| 2024 January | 37 | 2 | 39 |
| 2023 December | 31 | 10 | 41 |
| 2023 November | 36 | 3 | 39 |
| 2023 October | 33 | 4 | 37 |
| 2023 September | 11 | 4 | 15 |
| 2023 August | 24 | 5 | 29 |
| 2023 July | 27 | 7 | 34 |
| 2023 June | 25 | 5 | 30 |
| 2023 May | 48 | 8 | 56 |
| 2023 April | 40 | 4 | 44 |
| 2023 March | 34 | 8 | 42 |
| 2023 February | 16 | 10 | 26 |
| 2023 January | 17 | 4 | 21 |
| 2022 December | 17 | 11 | 28 |
| 2022 November | 25 | 6 | 31 |
| 2022 October | 20 | 10 | 30 |
| 2022 September | 17 | 15 | 32 |
| 2022 August | 24 | 15 | 39 |
| 2022 July | 11 | 13 | 24 |
| 2022 June | 25 | 15 | 40 |
| 2022 May | 22 | 13 | 35 |
| 2022 April | 23 | 36 | 59 |
| 2022 March | 43 | 14 | 57 |
| 2022 February | 41 | 10 | 51 |
| 2022 January | 51 | 22 | 73 |
| 2021 December | 18 | 23 | 41 |
| 2021 November | 20 | 15 | 35 |
| 2021 October | 22 | 13 | 35 |
| 2021 September | 10 | 35 | 45 |
| 2021 August | 14 | 32 | 46 |
| 2021 July | 12 | 25 | 37 |
| 2021 June | 15 | 19 | 34 |
| 2021 May | 17 | 9 | 26 |
| 2021 April | 21 | 17 | 38 |
| 2021 March | 26 | 18 | 44 |
| 2021 February | 17 | 10 | 27 |
| 2021 January | 25 | 8 | 33 |
| 2020 December | 5 | 6 | 11 |
| 2020 October | 0 | 3 | 3 |
Show all
