Limb-Girdle Muscular Dystrophies

Abstract

The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD, at the Institute of Human Genetics, University Newcastle upon Tyne, UK.

Keywords

• fukutin-related protein
• limb-girdle muscular dystrophy
• muscle biopsies