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Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

OBJECTIVE: Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM. METHODS: Mutations in FHL1 were identified by direct sequencing. Polymorphisms were ex...

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Detalhes bibliográficos
Main Authors: Selcen, Duygu, Bromberg, Mark B., Chin, Steven S., Engel, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3235356/
https://ncbi.nlm.nih.gov/pubmed/22094483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31823a0ebe
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