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

Lookup NU author(s): Professor Bobby McFarlandORCiD, Dr Helen Swalwell, Emeritus Professor Doug Turnbull, Emerita Professor Katherine Bushby, Professor Robert Taylor


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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-tRNAAla 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. © 2007 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KMD, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2008

Volume: 18

Issue: 1

Pages: 63-67

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier


DOI: 10.1016/j.nmd.2007.07.007

PubMed id: 17825557


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Funder referenceFunder name
074454Wellcome Trust
G0601943Medical Research Council
G108/539Medical Research Council