Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of α-dystroglycan. In th...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Brown, Susan C., Torelli, Silvia, Brockington, Martin, Yuva, Yeliz, Jimenez, Cecilia, Feng, Lucy, Anderson, Louise, Ugo, Isabella, Kroger, Stephan, Bushby, Kate, Voit, Thomas, Sewry, Caroline, Muntoni, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2004
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602276/
https://ncbi.nlm.nih.gov/pubmed/14742276
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados