X-linked myotubular myopathy in a family with three adult survivors

被引：26

作者：

Yu, S ^{[4
]}

Manson, J

White, S

Bourne, A

Waddy, H

Davis, M

Haan, E

机构：

[1] Womens & Childrens Hosp, Dept Neurol, Adelaide, SA 5006, Australia

[2] Womens & Childrens Hosp, Dept Histopathol, Adelaide, SA 5006, Australia

[3] Womens & Childrens Hosp, S Australian Clin Genet Serv, Adelaide, SA 5006, Australia

[4] Womens & Childrens Hosp, Dept Lab Genet, Adelaide, SA, Australia

[5] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia

[6] Royal Adelaide Hosp, Dept Neurol, Adelaide, SA 5000, Australia

[7] Royal Perth Hosp, Dept Anat Pathol, Perth, WA, Australia

来源：

CLINICAL GENETICS | 2003年 / 64卷 / 02期

关键词：

adult MTM patients; mild MTM; missense mutation; X-linked myotubular myopathy;

D O I：

10.1034/j.1399-0004.2003.00118.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a family with an extremely mild form of X-linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities. The mildness of the myopathy in this family is highlighted by the following: no neonatal or infant mortality resulting from the myopathy; one affected male who did not have neonatal asphyxia and had normal early motor milestones - this affected male was able to increase his muscle bulk and strength to normal by weightlifting; and a 55-year-old male who still lives an independent life. DNA sequencing identified a novel missense mutation - G469A (E157K) - in exon 7 of the MTM1 gene in this family. To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature.

引用

页码：148 / 152

页数：5

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