Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference34 articles.
1. Agene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B;Bashir;Nat Genet,1998
2. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998
3. Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes;Nguyen;Arch Neurol,2007
4. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy;Xi;Neurol India,2014
5. Two common mutations (p.Gln832X and c.663 1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy;Park;Neuromuscul Disord,2012
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