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

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

Abstract 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 r...

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Bibliographic Details
Main Authors: Jing Miao, Fei-fei Su, Xue-mei Liu, Xiao-jing Wei, Yun Yuan, Xue-fan Yu
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Neurology
Subjects:
Deletion, Filamin C gene, Dominant, Myofibrillar myopathy, Case report
Online Access:http://link.springer.com/article/10.1186/s12883-018-1078-4

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http://link.springer.com/article/10.1186/s12883-018-1078-4

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