A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype-Reference-Cited by-同舟云学术

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A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

Published:2017-02 Issue:2 Volume:27 Page:175-182
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bednarz Marcin,Stunnenberg Bas C.,Kusters Benno,Kamsteeg Erik-Jan,Saris Christiaan G.,Groome James,Winston Vern,Meola Giovanni,Jurkat-Rott Karin,Voermans Nicol C.

Funder

German Federal Ministry of Research

German Society for Muscle Disease

Hertie Foundation

Fondazione Malattie Miotoniche Italy

NIH

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference40 articles.

1. Muscle channelopathies: the nondystrophic myotonias and periodic paralyses;Statland;Continuum (N Y),2013

2. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome;Arnold;Ann Neurol,2015

3. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis;Habbout;Neurology,2016

4. The primary periodic paralyses: diagnosis, pathogenesis and treatment;Venance;Brain,2006

5. Familial myotonic periodic paralysis with muscle wasting;Saunders;Brain,1968

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2. Diagnostics in skeletal muscle channelopathies;Expert Review of Molecular Diagnostics;2023-11-29

3. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy;Cells;2021-06-16

4. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine;Journal of Neuromuscular Diseases;2021-05-13

5. Guidelines on clinical presentation and management of nondystrophic myotonias;Muscle & Nerve;2020-05-27

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