The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations-Reference-Cited by-同舟云学术

The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

Published:2004 Issue:1 Volume:25 Page:38-44
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Frosk Patrick,Greenberg Cheryl R.,Tennese Alysa A.P.,Lamont Ryan,Nylen Edward,Hirst Cheryl,Frappier Danielle,Roslin Nicole M.,Zaik Michaela,Bushby Kate,Straub Volker,Zatz Mayana,de Paula Flavia,Morgan Kenneth,Fujiwara T. Mary,Wrogemann Klaus

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

3. The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

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

5. Making sense of the limb-girdle muscular dystrophies

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5. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases;Journal of Clinical Medicine;2021-11-25