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

BACKGROUND: Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region. Genetic variations in the FLNC gene result in...

Descripción completa

Detalles Bibliográficos
Autores principales: Miao, Jing, Su, Fei-fei, Liu, Xue-mei, Wei, Xiao-jing, Yuan, Yun, Yu, Xue-fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985593/
https://www.ncbi.nlm.nih.gov/pubmed/29866061
http://dx.doi.org/10.1186/s12883-018-1078-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985593/
https://www.ncbi.nlm.nih.gov/pubmed/29866061
http://dx.doi.org/10.1186/s12883-018-1078-4

Ejemplares similares