Pina Neto J.

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

Article

Abstract: We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an ea

Palabras claves:

Ataxia and retinitis pigmentosa (NARP), Maternally inherited Leigh syndrome (MILS), Mitochondria, Mitochondrial ATPase, Mitochondrial diseases, mitochondrial DNA, Muscle pathology, Myopathy, Neurogenic weakness, Respiratory chain, T8993G mitochondrial DNA mutation

Autores:

Barreira A., Marques W., Octavio Marques Pontes-Neto, Pina Neto J., Santos A.C.d., Sobreira C.

Fuentes:

scopus