Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Sign Up to like & getrecommendations! Published in 2019 at "Mitochondrion"
DOI: 10.1016/j.mito.2019.04.002
Abstract: Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and… read more here.
Keywords: congenital muscular; chkb gene; alteration mitochondrial; mutations chkb ... See more keywords