title: The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
abstract: m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).
authors.affiliation: Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Keilland
authors.affiliation: Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: C A
authors.initials: CA
authors.lastname: Rupar
authors.affiliation: Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: Asuri N
authors.initials: AN
authors.lastname: Prasad
authors.affiliation: Medical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: K Y
authors.initials: KY
authors.lastname: Tay
authors.affiliation: Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Downie
authors.affiliation: Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Prasad
keywords: MELAS; MELAS 3291T > C; Mitochondrial; Phenotypic features; tRNAleu (UUR) mutation