Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Abstract Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, includin...

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Bibliographic Details
Main Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Medical Genetics
Subjects:
LGMD
Consanguineous family
TTN
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-019-0895-7

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http://link.springer.com/article/10.1186/s12881-019-0895-7

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