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

Akihiko Ishiyama; Aritoshi Iida; Shinichiro Hayashi; Hirofumi Komaki; Masayuki Sasaki; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino

doi:10.1038/s41439-018-0018-6

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

Hum Genome Var. 2018 Jul 20:5:19. doi: 10.1038/s41439-018-0018-6. eCollection 2018.

Authors

Akihiko Ishiyama^{1

2}, Aritoshi Iida³, Shinichiro Hayashi², Hirofumi Komaki¹, Masayuki Sasaki¹, Ikuya Nonaka², Satoru Noguchi², Ichizo Nishino^{2

3}

Affiliations

¹ 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
² 2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
³ 3Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.

Abstract

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.

Publication types

Case Reports