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

Authors

  • Juliana Aparecida Rhein Telles Universidade de São Paulo (USP), São Paulo, SP, Brasil.
  • Mariana Calil Voos Universidade de São Paulo (USP), São Paulo, SP, Brasil. Universidade Ibirapuera, São Paulo, SP, Brasil
  • Isabella Pessa Anequini Universidade de São Paulo (USP), São Paulo, SP, Brasil.
  • Francis Meire Favero Universidade de São Paulo (USP), São Paulo, SP, Brasil.
  • Thiago Henrique Silva Universidade de São Paulo (USP), São Paulo, SP, Brasil.
  • Fátima Aparecida Caromano Universidade de São Paulo (USP), São Paulo, SP, Brasil.

Abstract

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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Published

2018-09-04

Issue

Vol. 18 No. 1 (2018)

Section

Artigos