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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.