A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation
Author:
Funder
Italian Telethon
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference27 articles.
1. The ever-expanding spectrum of congenital muscular dystrophies;Mercuri;Ann Neurol,2012
2. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies;Lefeber;Am J Hum Genet,2009
3. A dystroglycan mutation associated with limb-girdle muscular dystrophy;Hara;N Engl J Med,2011
4. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation;Lefeber;PLoS Genet,2011
5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker–Warburg syndrome;Willer;Nat Genet,2012
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