Lookup NU author(s): Professor Bobby McFarland,
Dr Helen Swalwell,
Professor Doug Turnbull,
Professor Katherine Bushby,
Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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
Altmetrics provided by Altmetric