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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.
AuthorsRobert McFarland, Helen Swalwell, Emma L Blakely, Langping He, Emma J Groen, Douglass M Turnbull, Kate M Bushby, Robert W Taylor
JournalNeuromuscular disorders : NMD (Neuromuscul Disord) Vol. 18 Issue 1 Pg. 63-7 (Jan 2008) ISSN: 0960-8966 [Print] England
PMID17825557 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Genetic Markers
  • RNA, Transfer
  • Alanine
Topics
  • Adult
  • Alanine (genetics)
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Female
  • Genetic Markers (genetics)
  • Genetic Predisposition to Disease (genetics)
  • Genetic Testing
  • Humans
  • Inheritance Patterns (genetics)
  • Middle Aged
  • Mitochondria (genetics)
  • Mitochondrial Myopathies (genetics, pathology, physiopathology)
  • Molecular Sequence Data
  • Muscle Fibers, Skeletal (metabolism, pathology)
  • Muscle, Skeletal (pathology, physiopathology)
  • Phenotype
  • Point Mutation (genetics)
  • RNA, Transfer (genetics)

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