Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutat...

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Détails bibliographiques
Auteurs principaux: Schessl, Joachim, Taratuto, Ana L., Sewry, Caroline, Battini, Roberta, Chin, Steven S., Maiti, Baijayanta, Dubrovsky, Alberto L., Erro, Marcela G., Espada, Graciela, Robertella, Monica, Saccoliti, Maria, Olmos, Patricia, Bridges, Leslie R., Standring, Peter, Hu, Ying, Zou, Yaqun, Swoboda, Kathryn J., Scavina, Mena, Goebel, Hans-Hilmar, Mitchell, Christina A., Flanigan, Kevin M., Muntoni, Francesco, Bönnemann, Carsten G.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2724920/
https://ncbi.nlm.nih.gov/pubmed/19181672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn325
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