A Family of Bethlem Myopathy
Journal of the Korean Neurological Association
;
: 614-617, 2006.
Article
in Korean
| WPRIM
| ID: wpr-23261
ABSTRACT
Bethlem myopathy (BM) is an early-onset benign autosomal dominant myopathy characterized by proximal muscle weakness and multiple contractures. It is caused by mutations in the three genes encoding collagen VI, which is a ubiquitous extracellular matrix protein forming a microfibrillar network in close association with the basement membrane. Here, we present a family with BM which is the first reported Korean case.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Basement Membrane
/
Collagen
/
Muscle Weakness
/
Contracture
/
Extracellular Matrix
/
Muscular Diseases
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2006
Type:
Article
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