Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2021-07-01 | PMID 33170376
Machnicki Marcin M, Guglielmi Valeria, Pancheri Elia and 13 more
