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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: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | 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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