Article
Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.
Molecular medicine reports - 1 May 2015
Yang Yun, Mao Bing, Wang Lixia, Mao Liangwei, Zhou Aifen, Cao Jiangxia, Hu Jiasheng, Zhou Yan, Pan Yanhong, Wei Xiaoming, Yang Shuang, Mu Feng, Liu Zhisheng
Abstract excerpt
Mutations in the LAMA2 gene cause laminin α‑2 (merosin)‑deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders. Laminin α‑2 is widely expressed in the basement membrane of skeletal muscle, the myotendinous junctions and extra‑synaptically at neuromuscular synapses. In the present study, target next‑generation sequencing was used for mutation detection, and polymerase chain...
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