Charcot-Marie-Tooth Disease | Broad Institute

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. doi:10.1016/j.nmd.2014.04.010DOI PubMed Google Scholar

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Inoue K, Dewar K, Katsanis N, et al. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001;11(6):1018-33. doi:10.1101/gr.180401DOI PubMed Google Scholar