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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Bibliographic Details
Published in:Muscle & nerve Vol. 44; no. 1; pp. 126 - 128
Main Authors: Arias Gómez, Manuel, Alberte-Woodwar, Miguel, Arias-Rivas, Susana, Dapena, Dolores, Pintos, Elena, Navarro, Carmen
Format: Journal Article
Language:English
Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.07.2011
Wiley
Subjects:
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
Online Access:Get full text
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Description
Summary: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.
Bibliography: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