Unilateral calf atrophy secondary to a de novo mutation of the caveolin‐3 gene | Zendy

Arias Gómez Manuel | Zendy; AlberteWoodwar Miguel | Zendy; AriasRivas Susana | Zendy; Dapena Dolores | Zendy; Pintos Elena | Zendy; Navarro Carmen | Zendy

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Unilateral calf atrophy secondary to a de novo mutation of the caveolin‐3 gene

Author(s) -

Arias Gómez Manuel,

AlberteWoodwar Miguel,

AriasRivas Susana,

Dapena Dolores,

Pintos Elena,

Navarro Carmen

Publication year - 2011

Publication title -

muscle and nerve

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.025

H-Index - 145

eISSN - 1097-4598

pISSN - 0148-639X

DOI - 10.1002/mus.22079

Subject(s) - dysferlin , limb girdle muscular dystrophy , caveolin 3 , atrophy , mutation , biology , muscular dystrophy , pathology , exon , immunostaining , anatomy , genetics , gene , medicine , immunohistochemistry , caveolae , membrane

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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