Article
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Annals of neurology - 1 Mar 2016
Albulym Obaid M, Kennerson Marina L, Harms Matthew B, Drew Alexander P, Siddell Anna H, Auer-Grumbach Michaela, Pestronk Alan, Connolly Anne, Baloh Robert H, Zuchner Stephan, Reddel Stephen W, Nicholson Garth A
Abstract excerpt
OBJECTIVE: To use linkage analysis and whole exome sequencing to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth disease type 2 (CMT2) and pyramidal signs. METHODS: Genome-wide linkage analysis was performed to map the locus. Whole exome sequencing was undertaken on selected individuals (3 affected, 1 normal), and segregation analysis and mutation screening were...
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