Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

Rachael Duff, Valerie Tay, Peter Hackman, Gianina Ravenscroft, Catriona Ann McLean, Paul Kennedy, Alina Steinbach, Wiebke Schoffler, Peter van der Ven, Dieter Furst, Jaeguen Song, Kristina Djinovic-Carugo, Sini Penttila, Olayinka Raheem, Katrina Reardon, Alessandro Malandrini, Simona Gambelli, Marcello Villanova, Kristen Nowak, David WilliamsJohn Landers, Robert Brown, Jr., Bjarne Udd, Nigel Laing

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93 Citations (Scopus)

Abstract

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
Original languageEnglish
Pages (from-to)729 - 740
Number of pages12
JournalAmerican Journal of Human Genetics
Volume88
Issue number6
DOIs
Publication statusPublished - 2011

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