title: A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.
abstract: Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal dominant myopathy. The affected individuals in the family presented with foot drop in early childhood, along with progressive distal and proximal limb weakness. Their characteristic symptoms include scapular winging and scoliosis in the early disease phase and impairment of ambulation in the advanced phase. Although limb-girdle muscle dystrophy (LGMD) was suspected initially, a definite diagnosis could not be reached. As such, we performed linkage analysis and detected four linkage regions, namely 1q23.2-24.1, 14q11.2-12, 15q26.2-26.3 and 17q24.3. Through subsequent whole exome sequencing, we found a de novo p.K1617del causative mutation in the MYH7 gene and diagnosed the disease as LDM. This is the first LDM case in China. Our patients have severe clinical manifestations that mimic LGMD in comparison with the patients with the same mutation reported elsewhere.
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Oda
authors.affiliation: Department of Pediatrics, Peking University First Hospital , Beijing, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Peking University First Hospital , Beijing, China.
authors.forename: Shuo
authors.initials: S
authors.lastname: Wang
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Wataru
authors.initials: W
authors.lastname: Satake
authors.affiliation: Department of Pediatrics, Peking University First Hospital , Beijing, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiao
authors.affiliation: Department of Pediatrics, Peking University First Hospital , Beijing, China.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Pei-Chieng
authors.identifier: 0000-0002-5718-2824
authors.initials: PC
authors.lastname: Cha
authors.affiliation: Department of Pathophysiology, Tokyo Medical University , Tokyo, Japan.
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry , Tokyo, Japan.
authors.forename: Ichizo
authors.identifier: 0000-0001-9452-112X
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Computational Biology, Graduate School of Frontier Sciences, the University of Tokyo , Chiba, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Laboratory of Functional Genomics, Department of Medical Genome Sciences, Graduate School of Frontier Sciences, the University of Tokyo , Tokyo, Japan.
authors.forename: Sumio
authors.initials: S
authors.lastname: Sugano
authors.affiliation: Department of Pediatrics, Peking University First Hospital , Beijing, China.
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
authors.affiliation: Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda