Journal
MOLECULAR NEUROBIOLOGY
Volume 53, Issue 8, Pages 5097-5102Publisher
HUMANA PRESS INC
DOI: 10.1007/s12035-015-9439-0
Keywords
Limb-girdle muscular dystrophies; Exome sequencing; TTN; Mutation; Genetic testing
Categories
Funding
- National Natural Science Foundation of China [81441033, 81271921]
- Natural Science Foundation of Hunan Province, China [2015JJ4088]
- Fundamental Research Funds of Central South University, China [2015zzts318]
- Foster Key Subject of the Third Xiangya Hospital Clinical Laboratory Diagnostics
- Zhishan Lead Project of the Third Xiangya Hospital
- Hunan Provincial Innovation Foundation for Postgraduate, China [7138000008]
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Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of genetic myopathies characterized by progressive proximal pelvic and/or shoulder girdle muscle weakness, with the onset ages ranging from early childhood to late adulthood. The identification of these dystrophies through genetic testing will not only inform long-term prognosis but will also assist in directing care more efficiently, including more frequent cardiorespiratory monitoring and prophylactic treatments. The aim of this study was to identify the responsible gene in a five-generation Chinese Han pedigree with autosomal recessive LGMD. Exome sequencing was conducted and a novel mutation c.107788T > C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with the disorder in the family and was absent in normal controls. Our discovery broadens the mutation spectrum of the TTN gene associated with LGMD2J.
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