Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference17 articles.
1. Dysferlinopathies;Amato;Handb. Clin. Neurol.,2011
2. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy;Aoki;Neurology.,2001
3. Defective membrane repair in dysferlin-deficient muscular dystrophy;Bansal;Nature.,2003
4. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B;Bashir;Nat. Genet.,1998
5. UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene;Blandin;Hum. Mutat.,2012
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