WebMutations in the PMP22 gene cause several forms of a neurological disorder called Charcot-Marie-Tooth disease. This disorder damages the peripheral nerves, which can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. An extra copy of the PMP22 gene in each cell caused by a duplication of genetic WebThe PMP22 gene is also involved in the majority of families with hereditary neuropathy with liability to pressure palsies (HNPP). The observation of a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene, in CMT1 and the reciprocal deletion in the same region in HNPP has provided a novel disease paradigm for autosomal ...
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) AND Hereditary …
WebAug 22, 2024 · National Center for Biotechnology Information WebBy a gene dosage mechanism, CMT1A and HNPP result from duplication or deletion, respectively, of a 1.5 Mb DNA fragment on chromosome 17p12 that contains the peripheral myelin protein 22 (PMP22)gene. Compared with two copies in normal people, the PMP22 gene has been shown to be amplified to three or even four copies in CMT1A cases and … fmovies south park
Genes Free Full-Text Peripheral Myelin Protein 22 Gene …
WebMyelination of the peripheral nervous system requires Schwann cells (SC) differentiation into the myelinating phenotype. The peripheral myelin protein-22 (PMP22) is an integral membrane glycoprotein, expressed in SC. It was initially described as a growth arrest-specific (gas3) gene product, up-regulated by serum starvation. PMP22 mutations were … WebNov 4, 2009 · Matsunami N, Smith B, Ballard L et al: Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth … WebOct 1, 2009 · A single duplication was missed by the RFLP-PCR assay, which accords with the lower sensitivity of this method. It is concluded that the MLPA allows accurate detection of PMP22 gene duplications/deletions and could be used for the molecular diagnosis of these two neuropathies. fmovies south africa