Journal article
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients
LB Waddell, J Tran, XF Zheng, CG Bönnemann, Y Hu, FJ Evesson, M Lek, S Arbuckle, MX Wang, RL Smith, KN North, NF Clarke
Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2011
Abstract
FHL1, BAG3, MATR3 and PTRF are recently identified myopathy genes associated with phenotypes that overlap muscular dystrophy. TCAP is a rare reported cause of muscular dystrophy not routinely screened in most centres. We hypothesised that these genes may account for patients with undiagnosed forms of muscular dystrophy in Australia. We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9), MATR3 (n=15) and PTRF (n=7). We found one FHL1 mutation (c.311G>A, p.C104Y) in a boy with rapidly progressive muscle weakness and reducing body myo..
View full abstractGrants
Awarded by National Institute of Neurological Disorders and Stroke
Funding Acknowledgements
We thank the families involved for their invaluable contribution to this research. L.W., N.C. and K.N. are supported by the National Health and Medical Research Council of Australia (L.W. Grant 505004, N.C. Grant 206529 and 571287 and K.N. Grant 301946 and 403941).