Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference27 articles.
1. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy;Wells;J Biol Chem,2013
2. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan;Godfrey;Brain,2007
3. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies;Michele;Nature,2002
4. Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-year period;Sframeli;Neuromuscul Disord,2017
5. Prevalence of congenital muscular dystrophy in Italy: a population study;Graziano;Neurology,2015
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