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Article

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

American journal of human genetics - 12 Aug 2011

Weedon Michael N, Hastings Robert, Caswell Richard, Xie Weijia, Paszkiewicz Konrad, Antoniadi Thalia, Williams Maggie, King Cath, Greenhalgh Lynn, Newbury-Ecob Ruth, Ellard Sian

Abstract excerpt

Charcot-Marie-Tooth disease is characterized by length-dependent axonal degeneration with distal sensory loss and weakness, deep-tendon-reflex abnormalities, and skeletal deformities. It is caused by mutations in more than 40 genes. We investigated a four-generation family with 23 members affected by the axonal form (type 2), for which the common causes had been excluded by Sanger sequencing. Exome sequencing of...

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PMID: 21820100
DOI: 10.1016/j.ajhg.2011.07.002
PMCID: PMC3155164

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