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A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report
BACKGROUND: Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous. CASE PRESENTATION: The patient was a 37-year-old ma...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697925/ https://www.ncbi.nlm.nih.gov/pubmed/31421687 http://dx.doi.org/10.1186/s12883-019-1410-7 |