A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage
作者:
Michael R. Rose,
Robin S. Howard,
Sally A. Genet,
Catherine J. McMahon,
A. Whitfield,
John A. Morgan‐Hughes,
期刊:
Muscle&Nerve
(WILEY Available online 1993)
卷期:
Volume 16,
issue 1
页码: 57-62
ISSN:0148-639X
年代: 1993
DOI:10.1002/mus.880160110
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: dystrophin gene deletion;Becker muscular dystrophy;glycogen storage myopathy
数据来源: WILEY
摘要:
AbstractA 30‐year‐old man with no family history of muscle disease presented with a progressive proxirnal myopathy and calf hypertrophy characteristic of Becker muscular dystrophy. A deletion of exons 45 to 48 in the dystrophin gene was confirmed by Southern blotting and multiplex polymerase chain reaction. However, muscle biopsy showed massive accumulation of glycogen, although no significant abnormality of glycolytic pathway enzymes could be demonstrated. This patient therefore has a previously undescribed myopathy associated with both Becker muscular dystrophy and a glycogen storage disorder of unknown aetiology. © 1993 John Wiley&Sons,
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