Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene-Reference-Cited by-同舟云学术

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

Published:2008 Issue:3 Volume:146A Page:380-383
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gay Sébastien,Dupuis Delphine,Faivre Laurence,Masurel-Paulet Alice,Labenne Marc,Colombani Marina,Soichot Pierre,Huet Frédéric,Hainque Bernard,Sternberg Damien,Fontaine Bertrand,Gouyon Jean-Bernard,Thauvin-Robinet Christel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

2. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

3. From Ionic Currents to Molecular Mechanisms

4. Phenotypic variability in myotonia congenita

5. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification

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