Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

PURPOSE: To characterize the clinical features and perform linkage analysis of candidate loci in a large Illinois family with autosomal dominant limb-girdle muscular dystrophy (LGMD) and Paget disease of bone (PDB). METHODS: The family includes 11 affected individuals (8 M, 3 F). Clinical, biochemic...

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Publicado no:Genet Med
Principais autores: Kimonis, Virginia E., Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne, Salam, Ambar, Rimer, Lisa, Davis, Katherine, Khardori, Romesh, Gelber, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6173187/
https://ncbi.nlm.nih.gov/pubmed/11252708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/00125817-200007000-00006
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