A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
Journal of the Korean Neurological Association
;
: 215-219, 2018.
Article
in Korean
| WPRIM
| ID: wpr-766673
ABSTRACT
Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Skin
/
Muscle Weakness
/
Contracture
/
Muscular Dystrophies, Limb-Girdle
/
Diagnosis
/
Joints
/
Muscular Diseases
/
Muscular Dystrophies
Type of study:
Diagnostic study
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2018
Type:
Article
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