In:
Muscle & Nerve, Wiley, Vol. 44, No. 1 ( 2011-07), p. 126-128
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0148-639X
,
1097-4598
Language:
English
Publisher:
Wiley
Publication Date:
2011
detail.hit.zdb_id:
1476641-3
SSG:
12
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