Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

Title
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1
Authors
Keywords
ASAH1, Spinal muscular atrophy and progressive myoclonic epilepsy
Journal
NEUROMUSCULAR DISORDERS
Volume 25, Issue 3, Pages 222-224
Publisher
Elsevier BV
Online
2014-11-22
DOI
10.1016/j.nmd.2014.11.007

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