TWO CHILDREN WITH "DROPPED HEAD" SYNDROME DUE TO LAMIN A/C MUTATIONS

被引：13

作者：

Chemla, Jeremy C. ^{[2
]}

Kanter, Ronald J. ^{[1
]}

Carboni, Michael P. ^{[1
]}

Smith, Edward C. ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA

[2] Duke Univ, Med Ctr, Dept Neurobiol, Durham, NC 27710 USA

来源：

MUSCLE & NERVE | 2010年 / 42卷 / 05期

关键词：

congenital muscular dystrophy; dropped head" syndrome; laminopathy; LMNA; L-CMD; LMNA;

D O I：

10.1002/mus.21820

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

LMNA-related congenital muscular dystrophy (L-CMD) is a recently described disorder characterized by infantile-onset myopathy due to mutations in the lamin A/C (LMNA) gene. We report the genetic and clinical characteristics of two unrelated L-CMD patients. Patient 1 harbored a novel, L35P mutation and patient 2 a previously reported R249W mutation. The striking phenotype associated with L-CMD is important to recognize, as molecular diagnostic testing can spare patients unnecessary procedures and prompt the physician to monitor for associated cardiac arrhythmias. Muscle Nerve 42: 839-841, 2010

引用

页码：839 / 841

页数：3

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