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KMID : 0359720180360030215
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Journal of the Korean Neurological Association
2018 Volume.36 No. 3 p.215 ~ p.219
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A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
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Park Young-Eun
Son Hwan-Jun
Lee Chang-Hoon
Shin Jin-Hong
Kim Dae-Seong
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Abstract
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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.
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KEYWORD
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Collagen VI, Bethlem myopathy, Phenotype
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