A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference24 articles.
1. Congenital myopathies;Romero;Handb Clin Neurol,2013
2. Nemaline myopathy: a clinical study of 143 cases;Ryan;Ann Neurol,2001
3. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies;Ferreiro;Am J Hum Genet,2002
4. SEPN1: associated with congenital fiber-type disproportion and insulin resistance;Clarke;Ann Neurol,2006
5. Exome sequencing identifies the cause of a mendelian disorder;Ng;Nat Genet,2010
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