myotilin Mutation Found in Second Pedigree with LGMD1A

Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German...

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Autors principals: Hauser, Michael A., Conde, Cecilia B., Kowaljow, Valeria, Zeppa, Guillermo, Taratuto, Ana L., Torian, Udana M., Vance, Jeffery, Pericak-Vance, Margaret A., Speer, Marcy C., Rosa, Alberto L.
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2002
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC378586/
https://ncbi.nlm.nih.gov/pubmed/12428213
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