A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Hicks D; Sarkozy A; Muelas N; Koehler K; Huebner A; Hudson G; Chinnery PF; Barresi R; Eagle M; Polvikoski T; Bailey G; Miller J; Radunovic A; Hughes PJ; Roberts R; Krause S; Walter MC; Laval SH; Straub V; Lochmüller H; Bushby K; Brain: A Journal Of Neurology, 2011, vol. 134, issue Pt 1, p 171, ISSN 14602156. ISBN 14602156.

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