Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.

Autor: Chen PS; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Sung CJ; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan., Liu YW; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan., Weng WC; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Fan PC; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Lee WT; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Wu CS; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Sung YF; Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Tsai MC; Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan., Hsueh HW; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Fan SM; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan., Wu MC; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Geriatrics and Gerontology, National Taiwan University Hospital, Taipei, Taiwan., Li H; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Chen HY; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Lin HI; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Ou-Yang CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan., Hwuh WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan., Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Dec; Vol. 38 (12), pp. 2217-2229. Date of Electronic Publication: 2023 Sep 27.