MPZ

(redirected from CMT1B)

MPZ

A gene on chromosome 1q23.3 that encodes a major structural protein of peripheral myelin, which creates an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent
myelin lamellae.

Molecular pathology
MPZ mutations are linked to Charcot-Marie-Tooth disease type 1 and other polyneuropathies.

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References in periodicals archive ?

On the other hand, genetic testing provides an exact diagnosis of a specific subtype of CMT, including CMT1A, CMT1B, CMT1C, CMT1D, CMT1F, CMTX1, CMT2A1, CMT2A2, CMT2B, and CMT2O.

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients

Most MPZ mutations are associated with a CMT1B phenotype, but in some cases, primary axonal involvement has been found.

Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution

2 [4,5]; CMT1B disease, caused by the gene coding for the myelin protein [P.

Rapid detection of a recombinant hotspot associated with Charcot--Marie--Tooth disease type IA a duplication by a PCR-based DNA test