A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
Journal of the Korean Neurological Association
; : 215-219, 2018.
Article
en Ko
| WPRIM
| ID: wpr-766673
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
/
Piel
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Debilidad Muscular
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Contractura
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Distrofia Muscular de Cinturas
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Diagnóstico
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Articulaciones
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Enfermedades Musculares
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Distrofias Musculares
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Año:
2018
Tipo del documento:
Article