Debilidad aislada de cinturas: ampliación del espectro fenotípico de la mutación MERRF 8344A>G del ADN mitocondrial

The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation.A 57-year-old...