Associated Papers
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Gonzalez-Perez P et al.
Neuromuscular Disorders : Nmd, 2020
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T et al.
Nature Genetics, 2012
22522420 (PubMed )
Supplement: NIHMS365606-supplement-1.pdf
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