Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

被引：21

作者：

Grogan, PM

Tanner, SM

Orstavik, KH

Knudsen, GPS

Saperstein, DS

Vogel, H

Barohn, RJ

Herbelin, LL

McVey, AL

Katz, JS

机构：

[1] Stanford Univ, Med Ctr, Dept Neurol, Palo Alto, CA 94304 USA

[2] Stanford Univ, Med Ctr, Dept Neuropathol, Palo Alto, CA 94304 USA

[3] Palo Alto Vet Affairs Hlth Care Syst, Palo Alto, CA USA

[4] Ohio State Univ, Human Canc Genet Progam, Columbus, OH 43210 USA

[5] Natl Hosp, Dept Med Genet, Oslo, Norway

[6] Univ Oslo, Rikshosp, Fac Div, N-0027 Oslo, Norway

[7] Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66103 USA

来源：

NEUROLOGY | 2005年 / 64卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000160393.99621.D0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.

引用

页码：1638 / 1640

页数：3

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