Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B), the most common of the DAs, to chromosome 11. We now report that DA2B is caused by mutations in TNNI2 that are predicted to dis...

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Bibliographic Details
Main Authors:	Sung, Sandy S., Brassington, Anna-Marie E., Grannatt, Kathryn, Rutherford, Ann, Whitby, Frank G., Krakowiak, Patrycja A., Jorde, Lynn B., Carey, John C., Bamshad, Mike
Format:	Artigo
Language:	Inglês
Published:	The American Society of Human Genetics 2003
Subjects:	Articles
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1180243/ https://ncbi.nlm.nih.gov/pubmed/12592607
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Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

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