Format

Send to

Choose Destination
Neuromuscul Disord. 2008 Jan;18(1):63-7. Epub 2007 Sep 6.

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

Author information

1
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

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.

PMID:
17825557
DOI:
10.1016/j.nmd.2007.07.007
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center