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.

中文翻译：

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在一名患有LMNA相关的先天性肌营养不良的日本患者中鉴定出一种新的LMNA突变。

LMNA相关的先天性肌营养不良（L-CMD）是一种严重的肌肉椎板病。LMNA编码核纤层蛋白A，它是一种附着在核膜内膜上的中间丝蛋白。我们基于原始的针对肌肉疾病的靶基因面板系统进行了序列分析，以对一名患有L-CMD的日本女孩进行分子诊断。据报道，LMNA中有一个新的杂合错义突变，c.115A> C（p.Asn39His）。