Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy
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Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency.
Nội dung trích xuất từ tài liệu:
Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy
Nội dung trích xuất từ tài liệu:
Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy
Tìm kiếm theo từ khóa liên quan:
Sanger sequencing Congenital muscular dystrophies Ullrich congenital muscular dystrophies Phenotype continuum Muscle weaknessTài liệu liên quan:
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