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...
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 |
Ejemplares similares
-
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
por: Sellung, Dominik, et al.
Publicado: (2023) -
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
por: Miao, Jing, et al.
Publicado: (2018) -
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
por: Nicolau, Stefan, et al.
Publicado: (2020) -
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
por: Schuld, Julia, et al.
Publicado: (2020) -
Mitochondrial dysfunction in myofibrillar myopathy
por: Vincent, Amy E., et al.
Publicado: (2016)