Article
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Human mutation - 1 Aug 2013
Sarkozy Anna, Hicks Debbie, Hudson Judith, Laval Steve H, Barresi Rita, Hilton-Jones David, Deschauer Marcus, Harris Elizabeth, Rufibach Laura, Hwang Esther, Bashir Rumaisa, Walter Maggie C, Krause Sabine, van den Bergh Peter, Illa Isabel, Pénisson-Besnier Isabelle, De Waele Liesbeth, Turnbull Doug, Guglieri Michela, Schrank Bertold, Schoser Benedikt, Seeger Jürgen, Schreiber Herbert, Gläser Dieter, Eagle Michelle, Bailey Geraldine, Walters Richard, Longman Cheryl, Norwood Fiona, Winer John, Muntoni Francesco, Hanna Michael, Roberts Mark, Bindoff Laurence A, Brierley Charlotte, Cooper Robert G, Cottrell David A, Davies Nick P, Gibson Andrew, Gorman Gráinne S, Hammans Simon, Jackson Andrew P, Khan Aijaz, Lane Russell, McConville John, McEntagart Meriel, Al-Memar Ali, Nixon John, Panicker Jay, Parton Matt, Petty Richard, Price Christopher J, Rakowicz Wojtek, Ray Partha, Schapira Anthony H, Swingler Robert, Turner Chris, Wagner Kathryn R, Maddison Paul, Shaw Pamela J, Straub Volker, Bushby Kate, Lochmüller Hanns
Abstract excerpt
Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations...
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