title: Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
abstract: We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds General Infirmary, Leeds, West Yorkshire, UK. anne-marie.childs@leedsth.nhs.uk
authors.forename: A-M
authors.initials: AM
authors.lastname: Childs
authors.forename: T
authors.initials: T
authors.lastname: Hutchin
authors.forename: K
authors.initials: K
authors.lastname: Pysden
authors.forename: L
authors.initials: L
authors.lastname: Highet
authors.forename: J
authors.initials: J
authors.lastname: Bamford
authors.forename: J
authors.initials: J
authors.lastname: Livingston
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases