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Article

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

Neurogenetics - 1 Nov 2012

Tsurusaki Yoshinori, Saitoh Shinji, Tomizawa Kazuhiro, Sudo Akira, Asahina Naoko, Shiraishi Hideaki, Ito Jun-Ichi, Tanaka Hajime, Doi Hiroshi, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. The identical mutation was recently reported in a pedigree with the axonal form of Charcot-Marie-Tooth disease. Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal...

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PMID: 22847149
DOI: 10.1007/s10048-012-0337-6

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