A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
Journal of the Korean Neurological Association
; : 215-219, 2018.
Article
em Ko
| WPRIM
| ID: wpr-766673
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fenótipo
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Pele
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Debilidade Muscular
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Contratura
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Distrofia Muscular do Cíngulo dos Membros
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Diagnóstico
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Articulações
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Doenças Musculares
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Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2018
Tipo de documento:
Article