A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
Journal of the Korean Neurological Association
;
: 215-219, 2018.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Pele
/
Debilidade Muscular
/
Contratura
/
Distrofia Muscular do Cíngulo dos Membros
/
Diagnóstico
/
Articulações
/
Doenças Musculares
/
Distrofias Musculares
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2018
Tipo de documento:
Artigo
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