COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.

Abstract excerpt

OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9...

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