Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

INTRODUCTION: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinct type of myofibrillar myopathy (MFM). METHODS: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. RESULTS: The patient harbor...

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Main Authors: Tasca, Giorgio, Odgerel, Zagaa, Monforte, Mauro, Aurino, Stefania, Clarke, Nigel F., Waddell, Leigh B., Udd, Bjarne, Ricci, Enzo, Goldfarb, Lev G.
格式: Artigo
語言:Inglês
出版: 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3400116/
https://ncbi.nlm.nih.gov/pubmed/22806379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.23349
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