A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

被引：21

作者：

Hattori, Ayako ^{[1
]}

Komaki, Hirofumi ^{[1
]}

Kawatani, Masao ^{[2
]}

Sakuma, Hiroshi ^{[1
]}

Saito, Yoshiaki ^{[1
]}

Nakagawa, Eiji ^{[1
]}

Sugai, Kenji ^{[1
]}

Sasaki, Masayuki ^{[1
]}

Hayashi, Yukiko K. ^{[3
]}

Nonaka, Ikuya ^{[1
,3
]}

Nishino, Ichizo ^{[3
]}

机构：

[1] Natl Ctr Hosp, NCNP, Dept Child Neurol, Tokyo 1878551, Japan

[2] Univ Fukui, Dept Pediat, Fac Med Sci, Fukui 910, Japan

[3] NCNP, Dept Neuromuscular Res, Natl Inst Neurosci, Tokyo, Japan

来源：

NEUROMUSCULAR DISORDERS | 2012年 / 22卷 / 02期

关键词：

A-type lamin; LMNA; L-CMD; Congenital muscular dystrophy; Dropped head; Brain abnormality; LAMIN A/C; PHENOTYPE;

D O I：

10.1016/j.nmd.2011.08.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These distinct clinical findings prompted a mutational analysis of the lamin A (LMNA) gene, and we identified a novel heterozygous mutation in LMNA (c.1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head. (c) 2011 Elsevier B.V. All rights reserved.

引用

页码：149 / 151

页数：3

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