Limb-Girdle Muscular Dystrophies

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-17-5-6

Keywords:

Fukutin-Related Protein, Limb-Girdle Muscular Dystrophy, Muscle Biopsies

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.

Published

2003-05-01

Issue

Section

Neuromuscular Disorders