CMT IA
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Overview
From WUSTL Neuromuscular● PMP-22 Gene mutations Clinical-Gene relations Duplication Contiguous gene (YUHAL) Triplication Homozygous (Duplication) Point Allelic disorders Recessive CMT 1E (Deafness) Protein Pathology Also see: HNPP CMT 1APMP-22 Duplication Chaddock 1900 CMT 1A: Epidemiology Prevalence: 10.5 per 100,000 60% to 70% of Demyelinating CMT 40% to 50% of all CMT Genetics PMP-22 Gene mutation types Duplication of one PMP-22 gene (3 total copies of PMP-22): Types Segmental duplication in gene area Due to unequal crossing over of chromosomes during meiosis Duplication size Varies among patients Longer (Extended
OMIM Entries
Related Conditions
Shared genesExternal Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.