The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

McFarland, Robert; Swalwell, Helen; Blakely, Emma L.; He, Langping; Groen, Emma J.; Turnbull, Douglass M.; Bushby, Kate M.; Taylor, Robert W.

doi:10.1016/j.nmd.2007.07.007

« Previous Next »Neuromuscular Disorders
Volume 18, Issue 1 , Pages 63-67, January 2008

The m.5650G>A mitochondrial tRNA^Ala mutation is pathogenic and causes a phenotype of pure myopathy

Robert McFarland
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
- Corresponding author. Tel.: +44 191 222 8334; fax: +44 191 222 8553.
Helen Swalwell
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
Emma L. Blakely
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
Langping He
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
Emma J. Groen
- Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
Douglass M. Turnbull
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
- Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
Kate M. Bushby
- Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
Robert W. Taylor
- Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
- Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK

Received 20 March 2007; received in revised form 2 July 2007; accepted 16 July 2007.

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.

Keywords: Mitochondrial myopathy, Mitochondrial tRNA mutation, Maternal inheritance