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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
Assuntos:
Original Articles
Acesso em linha: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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