نتایج جستجو برای: pmp22
تعداد نتایج: 356 فیلتر نتایج به سال:
diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...
BACKGROUND The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them. METHODS We analysed data from 1652 patients ...
BACKGROUND A 1.5-Mb microduplication containing the gene for peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12 is responsible for 75% of cases of the demyelinating form of Charcot-Marie-Tooth disease (CMT1A). Methods for molecular diagnosis of CMT1A use Southern blot and/or amplification by PCR of polymorphic poly(AC) repeats (microsatellites) located within the duplicated region, o...
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