title: The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.
abstract: We report a family where a predominantly proximal myopathy has become increasingly severe with successive generations of the maternal lineage. This pure myopathy has been caused by a mutation (m.5650G>A) in the mt-tRNA(Ala) gene that has been reported only once previously in a patient with CADASIL where the phenotype was dominated by neurological complications. This report is therefore the first description of the phenotype associated solely with this mutation and confirms its pathogenicity.
authors.affiliation: Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK. robert.mcfarland@ncl.ac.uk
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Helen
authors.initials: H
authors.lastname: Swalwell
authors.forename: Emma L
authors.initials: EL
authors.lastname: Blakely
authors.forename: Langping
authors.initials: L
authors.lastname: He
authors.forename: Emma J
authors.initials: EJ
authors.lastname: Groen
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Kate M
authors.initials: KM
authors.lastname: Bushby
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008969:Molecular Sequence Data; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics*