Article
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Clinical genetics - 1 Dec 2023
Guglielmi Valeria, Pancheri Elia, Cannone Elena, Nigro Vincenzo, Malatesta Manuela, Vettori Andrea, Giorgetti Alejandro, Torella Annalaura, Aurino Stefania, Cisterna Barbara, Marchetto Giulia, Tomelleri Giuliano, Tonin Paola, Schiavone Marco, Vattemi Gaetano
Abstract excerpt
Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy. We describe a family carrying a heterozygous MYOT deletion (Tyr4_His9del) that clinically was characterized by an early-adult onset distal muscle weakness and pathologically by a myofibrillar...
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