Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Alfonsina Ballester-LopezJudit Núñez-ManchónEmma KoehorstIan Linares-PardoMiriam AlmendroteGiuseppe LucenteNicolau GuanyabensMarta Lopez-OsiasAdrián Suárez-MesaShaliza Ann HanickJakub ChojnackiAlejandro LuciaGuillem Pintos-MorellJaume Coll-CantíAlicia Martínez-PiñeiroAlba Ramos-FransiGisela Nogales-Gadea

Published in: Neurology. Genetics (2020)

CTG expansion size modulates RNA foci number in myoblasts derived from patients with DM1. MBNL1 sequestration plays only a minor role in the pathobiology of the disease in these cells. Higher number of cytoplasmic RNA foci is related to an early onset of the disease, a finding that should be corroborated in future studies.

Keyphrases

early onset
induced apoptosis
metabolic syndrome
cell cycle arrest
cell proliferation
insulin resistance
muscular dystrophy