Ontology highlight
ABSTRACT:
SUBMITTER: Duff RM
PROVIDER: S-EPMC3113346 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Duff Rachael M RM Tay Valerie V Hackman Peter P Ravenscroft Gianina G McLean Catriona C Kennedy Paul P Steinbach Alina A Schöffler Wiebke W van der Ven Peter F M PFM Fürst Dieter O DO Song Jaeguen J Djinović-Carugo Kristina K Penttilä Sini S Raheem Olayinka O Reardon Katrina K Malandrini Alessandro A Gambelli Simona S Villanova Marcello M Nowak Kristen J KJ Williams David R DR Landers John E JE Brown Robert H RH Udd Bjarne B Laing Nigel G NG
American journal of human genetics 20110527 6
Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy. Sequencing of FLNC cDNA identified a c.752T>C (p.Met251Thr) mutation in the N-terminal actin-binding domain (ABD); this mutation segregated with the ...[more]