Article
Phenotypic and immunohistochemical characterization of sarcoglycanopathies.
Clinics (Sao Paulo, Brazil) - 1 Jan 2011
Ferreira Ana F B, Carvalho Mary S, Resende Maria Bernadete D, Wakamatsu Alda, Reed Umbertina Conti, Marie Suely Kazue Nagahashi
Abstract excerpt
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutations in sarcoglycan genes. Mutations in these genes cause...
Topics
- Adolescent
- Adult
- Age Factors
- Analysis of Variance
- Biopsy
- Cohort Studies
- Female
- Humans
- Immunohistochemistry
- Limb Deformities, Congenital
- Male