A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy.
Hicks, Debbie; Sarkozy, Anna; Muelas, Nuria; Köehler, Katrin; Huebner, Angela; Hudson, Gavin; Chinnery, Patrick F.; Barresi, Rita; Eagle, Michelle; Polvikoski, Tuomo; Bailey, Geraldine; Miller, James; Radunovic, Aleksander; Hughes, Paul J.; Roberts, Richard; Krause, Sabine; Walter, Maggie C.; Laval, Steven H.; Straub, Volker; Lochmüller, Hanns; Brain: A Journal of Neurology, 2011, vol. 134, issue 1, p 171, ISSN 00068950. ISBN 14602156.

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