Ultrastructural Distribution of PMP22 in Charcot-Marie-Tooth Disease Type 1A
نویسندگان
چکیده
منابع مشابه
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this ...
متن کاملDistal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
Myelin insulates axons in the peripheral nervous system to allow rapid propagation of action potentials, and proper myelination requires the precise regulation of genes encoding myelin proteins, including PMP22. The correct gene dosage of PMP22 is critical; a duplication of PMP22 is the most common cause of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), whi...
متن کاملNerve excitability properties in Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth disease type 1A (CMT1A) is commonly considered a prototype of a hereditary demyelinating polyneuropathy. Apart from the myelin involvement, there has been little information on axonal membrane properties in this condition. Taking advantage of the uniform nature of the disease process, we undertook the in vivo assessment of multiple axonal excitability properties at the media...
متن کاملDNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by ...
متن کاملHypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensor...
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ژورنال
عنوان ژورنال: Journal of Neuropathology and Experimental Neurology
سال: 1996
ISSN: 0022-3069
DOI: 10.1097/00005072-199603000-00004