Article
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 - 1 Jul 2021
Machnicki Marcin M, Guglielmi Valeria, Pancheri Elia, Gualandi Francesca, Verriello Lorenzo, Pruszczyk Katarzyna, Kosinska Joanna, Sangalli Antonella, Rydzanicz Malgorzata, Romanelli Maria Grazia, Neri Marcella, Ploski Rafal, Tonin Paola, Tomelleri Giuliano, Stoklosa Tomasz, Vattemi Gaetano
Abstract excerpt
BACKGROUND: Myofibrillar myopathies (MFM) are a subgroup of protein aggregate myopathies (PAM) characterized by a common histological picture of myofibrillar dissolution, Z-disk disintegration, and accumulation of degradation products into inclusions. Mutations in genes encoding components of the Z-disk or Z-disk-associated proteins occur in some patients whereas in most of the cases, the causative gene defect is...
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