Article
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.
Oncotarget - 20 Dec 2016
Dai Yi, Liang Shengran, Huang Yan, Chen Lin, Banerjee Santasree
Abstract excerpt
Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can lead to death by respiratory failure. Mutations of SEPN1 gene are associated with autosomal recessive RSMD1. Here, we present a clinical molecular study of a Chinese proband with...
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