Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗)-Reference-Cited by-同舟云学术

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Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗)

Published:2018-12 Issue: Volume:58 Page:215-217
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Ohta Yasuyuki,Tadokoro Koh,Sasaki Ryo,Takahashi Yoshiaki,Sato Kota,Takemoto Mami,Hishikawa Nozomi,Shang Jingwei,Yamashita Toru,Takehisa Yasushi,Nishino Ichizo,Abe Koji

Funder

Grants-in-Aid for Scientific Research

NCNP

AMED

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference5 articles.

1. Clinical features of facioscapulohumeral muscular dystrophy 2;de Greef;Neurology,2010

2. Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations;Hamanaka;Neuromuscul Disord,2016

3. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy;Wijmenga;Nat Genet,1992

4. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2;Lemmers;Hum Mol Genet,2015

5. FSHD-like patients without 4q35 deletion;Yamanaka;J Neurol Sci,2004

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings;Neuromuscular Disorders;2021-11

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