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Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Giorgio TascaFabiana FattoriMauro MonforteCarola Hedberg-OldforsMario SabatelliBjarne UddRenata BoldriniEnrico BertiniEnzo RicciAnders Oldfors
Published in: Journal of neurology (2016)
Keyphrases
  • late onset
  • early onset
  • muscular dystrophy