Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

Cristina Domínguez-GonzálezRoberto Fernández-TorrónUrsula MooreCarlos Pablo de Fuenmayor-Fernández de la HozBeatriz Vélez-GómezJuan Antonio CabezasJorge Alonso-PérezLaura González-MeraMontse OlivéJorge García-GarcíaGermán MorisJuan Carlos León HernándezNuria MuelasEmilia Servian-MorillaMiguel A MartinJordi Díaz-Manera Carmen Paradas

Published in: Journal of neurology (2022)

By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.

Keyphrases

late onset
skeletal muscle
magnetic resonance imaging
contrast enhanced
early onset
oxidative stress
diffusion weighted imaging
magnetic resonance