Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Marcin M MachnickiValeria GuglielmiElia PancheriFrancesca GualandiLorenzo VerrielloKatarzyna PruszczykJoanna KosinskaAntonella SangalliMalgorzata RydzaniczMaria Grazia RomanelliMarcella NeriRafal PloskiPaola ToninGiuliano TomelleriTomasz StoklosaGaetano VattemiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
Our study identifies a new genetic background in PAM pathology and expands the clinical phenotype of known pathogenic mutations.
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