Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

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Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

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作者：Kohei Hamanaka^a ; ^b ; Kanako Goto^a ; Mami Arai^a ; Koji Nagao^c ; Chikashi Obuse^c ; Satoru Noguchi^a ; ^d ; Yukiko K. Hayashi^e ; Satomi Mitsuhashi^a ; ^{smitsuhashi@ncnp.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Ichizo Nishino^a ; ^d
关键词：Facioscapulohumeral muscular dystrophy 2 ; Structural maintenance of chromosomes flexible hinge domain containing 1 ; D4Z4 ; DNA methylation ; Pyrosequence
刊名：Neuromuscular Disorders
出版年：2016
出版时间：April-May 2016
年：2016
卷：26
期：4-5
页码：300-308
全文大小：3035 K

文摘

•: We identified 13 FSHD patients with SMCHD1 mutation from 11 unrelated families using pyrosequencing.
•: FSHD with SMCHD1 mutation and hypomethylation (FSHD2) is clinicopathologically compatible with FSHD1.
•: D4Z4 repeat size in FSHD2 is shorter than in control population.

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