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

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 mi...

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Vydané v:	Muscle & nerve Ročník 44; číslo 1; s. 126 - 128
Hlavní autori:	Arias Gómez, Manuel, Alberte-Woodwar, Miguel, Arias-Rivas, Susana, Dapena, Dolores, Pintos, Elena, Navarro, Carmen
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2011 Wiley
Predmet:	Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Caveolin 3 - genetics caveolin gene A45T mutation caveolinopathy Diseases of striated muscles. Neuromuscular diseases distal myopathy Errors of metabolism Humans Leg - pathology Male Medical sciences Metabolic diseases Muscle, Skeletal - pathology Muscular Atrophy - diagnosis Muscular Atrophy - genetics muscular dystrophies Mutation - genetics Neurology unilateral calf atrophy Young Adult unilateral calf atrophy Electrophysiology Ox Muscular dystrophy Atrophy Light Electromyography Muscle muscular dystrophies Ungulata Human Nervous system diseases Neuromuscular diseases Calf Electron microscopy distal myopathy Genetic disease caveolin gene A45T mutation Vertebrata Phenotype Mammalia Limb girdle muscular dystrophy Artiodactyla Mutation caveolinopathy Myopathy
ISSN:	0148-639X, 1097-4598, 1097-4598
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Shrnutí:	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.
Bibliografia:	ark:/67375/WNG-815NP5J8-S ArticleID:MUS22079 istex:791E2850C20D8911D011AD1D99139CE961DA0B26 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0148-639X 1097-4598 1097-4598
DOI:	10.1002/mus.22079