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Type 2 Update: One Patient’s Diagnostic Odyssey with SORD
…the drug basically cured CMT in fruit flies. “This is a remarkable discovery only possible due to large scale genomic data aggregation from volunteering CMT patients,” he added. Dr. Züchner,…
CMT_Fact_Sheet
Modafinil_Reduces_Fatigue_in_CMT1A_Dr_Gregory_Carter
Inherited Neuropathies Consortium Study 6611: Charcot-Marie-Tooth disease Infant Scale
…disability that is already in place. Clinical outcome assessments have been developed for adults (CMT Neuropathy Score (CMTNS)) and for children 3 years of age and older (CMT Pediatric Scale…
INC Research Study 6602: Genetics of Charcot Marie Tooth Disease
CMTA-Funded Research Database for CMT2 Identifies New Disease-Causing Mutations While researchers have identified more than 90 mutated genes that cause CMT, approximately 50 percent of CMT2 patients do not yet…
Genetic Testing
…have had one of five conditions, caused by mutations in four genes: CMT1A (PMP22 gene duplication), CMTX1 (aka CMT1X, CMTX) (GJB1 gene mutation), CMT1B (MPZ gene mutation), HNPP (PMP22 gene…