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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.
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
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
PubMed id: 17825557
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