A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y; Saitoh S; Tomizawa K; Sudo A; Asahina N; Shiraishi H; Ito J; Tanaka H; Doi H; Saitsu H; Miyake N; Matsumoto N; Neurogenetics, 2012, vol. 13, issue 4, p 327, ISSN 13646753. ISBN 13646753.

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