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Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento

Print version ISSN 1519-0307On-line version ISSN 1809-4139


TELLES, Juliana Aparecida Rhein et al. Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy - case studies. Cad. Pós-Grad. Distúrb. Desenvolv. [online]. 2018, vol.18, n.1, pp. 148-163. ISSN 1519-0307.

INTRODUCTION: Bethlem myopathy (BM) and Ullrich Congenital Muscular Dystrophy (DMCU) result from a mutation in collagen type VI. OBJECTIVE: Describe the functionality of BM and UMCD subjects, at the Center for Human Genome Studies. METHODS: It was researched functional skills in both cases, with muscle strength and shortening evaluation. RESULTS: Muscular strength and functional losses in two cases, with a worse score in DMCU.

Keywords : Bethlem Myopathy; Ullrich Congenital Muscular; Type VI collagen; Functional Tests; Disabilities.

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