UNILATERAL CALF ATROPHY SECONDARY TO A DE NOVO MUTATION OF THE CAVEOLIN-3 GENE

被引：0
作者：
Arias Gomez, Manuel [1 ]
Alberte-Woodwar, Miguel [1 ]
Arias-Rivas, Susana [1 ]
Dapena, Dolores [1 ]
Pintos, Elena [2 ]
Navarro, Carmen [3 ]
机构：
[1] Univ Santiago de Compostela, Hosp Clin, Dept Neurol, Santiago De Compostela 15706, Spain
[2] Univ Santiago de Compostela, Complejo Hosp, Dept Pathol, Santiago De Compostela 15706, Spain
[3] Univ Vigo, Complejo Hosp, Dept Pathol & Neuropathol, Meixoeiro, Spain
来源：
MUSCLE & NERVE | 2011年 / 44卷 / 01期
关键词：
caveolin gene A45T mutation; caveolinopathy; distal myopathy; muscular dystrophies; unilateral calf atrophy; CAV3; GENE; MUSCLE; FAMILY;
D O I：
10.1002/mus.22079
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes. Muscle Nerve 44: 126-128, 2011
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页码：126 / 128
页数：3
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