CMT1A


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AcronymDefinition
CMT1ACharcot-Marie-Tooth Disease Type 1A
References in periodicals archive ?
DNA was extracted from blood samples of unrelated individuals in which the diagnosis of CMT1A (50 individuals) and HNPP (30 individuals) had been determined previously by PFGE (14).
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].
The trial has enrolled patients aged 16 and older with mild-to-moderate CMT1A in 30 sites across Europe, the US, and Canada.
Haij: Top line results from our ongoing pivotal Phase 3 trial evaluating PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A) in adults are expected in the second quarter of 2018.
Twenty-four probands from unrelated families identified with the PMP22 gene duplication therefore were diagnosed with CMT1A and recruited in this study (Table 1), which made up 26.1% of the total CMT families.
To examine the structural consequence and the stability of the above predicted CMT1A associated nsSNP we performed molecular dynamics simulation of the prioritized mutant and the wild type PMP22 protein.
Summary: TEHRAN (FNA)- Findings of a new study revealed that Ascorbic acid at both doses was safe and well tolerated in adults with CMT1A over 12 months.
Molecular genetics and clinical implications of CMT1A and HNPP.
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).
Nerve conduction results showed injury to both the motor nerve and the sensory nerve in all patients, and the genotype included CMT disease type 1A (CMT1A, 58.8%), CMT disease type 2A (20.6%), and CMT disease type 1X (20.6%).
Hundreds of causative mutations have been found and research work for the identification of a novel locus and for the treatment of CMT1A is going on.