Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Juanjuan, Wu, Jun, Han, Chunxi, Li, Yao, Guo, Yuzu, Tong, Xiaoxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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