GJB1

(redirected from CMTX)
Also found in: Acronyms.

GJB1

A gene on chromosome Xq13.1 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB1 mutations cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy.
References in periodicals archive ?
Buna karsilik CMT1,3,4 ve CMTX demiyelinizan tipte noropati bulgular gosterirler ve EMG de sinir ileti hizlan uzamistir.
Charcot-Marie-Tooth disease type 2B/Charcot-Marie-Tooth hastaligi tip 2B
This situation has occurred: the exclusive provider of CMT1A testing effectively monopolized the market for CMTX testing even before the patent on CMTX was issued.
1] Nonstandard abbreviations: SCA, spinocerebellar ataxia; CMT1A and CMTX, Charcot-Marie-Tooth disease, type 1A and type X; and Apo-E, apolipoprotein E4 genotyping.
Disease gene patents: overcoming unethical constraints on clinical laboratory medicine
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