A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, Marchetto G, Tomelleri G, Tonin P, Schiavone M, Vattemi G.
Guglielmi V, et al. Among authors: marchetto g.
Clin Genet. 2023 Dec;104(6):705-710. doi: 10.1111/cge.14413. Epub 2023 Aug 8.
Clin Genet. 2023.
PMID: 37553249