Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy – case studies

Juliana Aparecida Rhein Telles, Mariana Calil Voos, Isabella Pessa Anequini, Francis Meire Favero, Thiago Henrique Silva, Fátima Aparecida Caromano

Resumo


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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