A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

被引：6

作者：

Ishiyama A. ^{[1
,2
]}

Iida A. ^{[3
]}

Hayashi S. ^{[2
]}

Komaki H. ^{[1
]}

Sasaki M. ^{[1
]}

Nonaka I. ^{[2
]}

Noguchi S. ^{[2
]}

Nishino I. ^{[2
,3
]}

机构：

[1] Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo

[2] Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo

[3] Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo

来源：

Human Genome Variation | / 5卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/s41439-018-0018-6

中图分类号：

学科分类号：

摘要：

LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. A novel heterozygous missense mutation, c.115A>C (p.Asn39His), in LMNA is reported. © 2018, The Author(s).

引用

共 50 条

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