Cambios selectivos en la resonancia magnética muscular en un paciente con una variante rara del ADN mitocondrial que

Taylor Watson-Fargie1, David G Anderson1, William Stewart2

  • 1Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, UK.

PubMed
Resumen

Este estudio detalla una rara enfermedad mitocondrial en una mujer joven que presenta debilidad muscular y problemas cardíacos. El análisis genético reveló una variante del gen MT-TK heredada por la madre que causa deterioro de la fosforilación oxidativa.

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