TY - JOUR
T1 - Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
AU - Duff, Rachael
AU - Tay, Valerie
AU - Hackman, Peter
AU - Ravenscroft, Gianina
AU - McLean, Catriona Ann
AU - Kennedy, Paul
AU - Steinbach, Alina
AU - Schoffler, Wiebke
AU - van der Ven, Peter
AU - Furst, Dieter
AU - Song, Jaeguen
AU - Djinovic-Carugo, Kristina
AU - Penttila, Sini
AU - Raheem, Olayinka
AU - Reardon, Katrina
AU - Malandrini, Alessandro
AU - Gambelli, Simona
AU - Villanova, Marcello
AU - Nowak, Kristen
AU - Williams, David
AU - Landers, John
AU - Brown, Jr., Robert
AU - Udd, Bjarne
AU - Laing, Nigel
PY - 2011
Y1 - 2011
N2 - 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
AB - 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
UR - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113346/pdf/main.pdf
U2 - 10.1016/j.ajhg.2011.04.021.
DO - 10.1016/j.ajhg.2011.04.021.
M3 - Article
SN - 0002-9297
VL - 88
SP - 729
EP - 740
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 6
ER -