A
Armelle Faure
Publications - 1
Citations - 1048
Armelle Faure is an academic researcher. The author has contributed to research in topics: Myocyte & Myopathy. The author has an hindex of 1, co-authored 1 publications receiving 1015 citations.
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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Patrick Vicart,Patrick Vicart,Anne Caron,Pascale Guicheney,Zhenlin Li,Zhenlin Li,Marie-Christine Prévost,Armelle Faure,Danielle Chateau,Françoise Chapon,Fernando M.S. Tomé,Jean-Marie Dupret,Denise Paulin,Denise Paulin,Michel Fardeau +14 more
TL;DR: These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder, and an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family.