Distal myopathy with ADSSL1 mutations in Korean patients-Reference-Cited by-同舟云学术

Distal myopathy with ADSSL1 mutations in Korean patients

Published:2017-05 Issue:5 Volume:27 Page:465-472
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Park Hyung Jun,Shin Ha Young,Kim Sungjun,Kim Se Hoon,Lee Yunbeom,Lee Jung Hwan,Hong Ji-Man,Kim Seung Min,Park Kee Duk,Choi Byung-Ok,Lee Ji Hyun,Choi Young-Chul

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome);Kaplan;Neuromuscul Disord,2015

2. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy;Park;Ann Neurol,2016

3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001

4. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

5. Distal myopathy caused by homozygous missense mutations in the nebulin gene;Wallgren-Pettersson;Brain,2007

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1. Diagnosis of ADSSL1 Mutation-Induced Myopathy Through Electrophysiology and Genetic Tools;Journal of Electrodiagnosis and Neuromuscular Diseases;2024-08-31

2. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant;Neurology Genetics;2024-02

3. Integrated Functions of Cardiac Energetics, Mechanics, and Purine Nucleotide Metabolism;Comprehensive Physiology;2023-12-29

4. A pilot investigation of muscle integrity in patients with ADSSL1 myopathy using electrical impedance myography;Muscle & Nerve;2023-09-08

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