Alvaro Urbano‐Márquez

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

X. Estivill, J. Fernández-Real, J. Grau, 1997, Human mutation.