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 ?

Sephinl showed beneficial effects on animal models of two protein-misfolding diseases, Charcot-Marie-tooth 1B (CMT1B) and Amyotrophic lateral sclerosis (ALS), without any side effect in chronic treatments [42].

Integrated Stress Response as a Therapeutic Target for CNS Injuries

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

Recent research has resulted in the development of rat and mouse forms of the most common type of CMT (CMT1A), the type that has to do with abnormalities in a gene on chromosome 17, and a mouse form of another form of CMT, the type that results from abnormalities in a gene on chromosome 1 (CMT1B).

Facts About Charcot-Marie-Tooth Disease (CMT)

CMT1A disease, which is the most frequent type, is linked to chromosome 17p11.2 [4,5]; CMT1B disease, caused by the gene coding for the myelin protein [P.sub.0], is linked to 1822 [6-9].

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