Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24247
Abstract: Pathogenic variants in Golgi snap receptor complex member 2 (GOSR2) cause progressive myoclonus epilepsy with ataxia, areflexia, elevated serum creatine kinase and loss of ambulation. Most reported patients are homozygous for the same pathogenic variant… read more here.
Keywords: phenotype; pathogenic variants; disease; key phenotype ... See more keywords
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
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DOI: 10.1002/jimd.70115
Abstract: North Sea‐Progressive Myoclonus Epilepsy (NS‐PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early‐onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of… read more here.
Keywords: gosr2 mutations; gosr2; epilepsy; spectrum gosr2 ... See more keywords