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Article

PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.

Journal of molecular neuroscience : MN - 1 May 2020

Nagappa Madhu, Sharma Shivani, Govindaraj Periyasamy, Chickabasaviah Yasha T, Siram Ramesh, Shroti Akhilesh, Debnath Monojit, Sinha Sanjib, Bindu Parayil S, Taly Arun B

Abstract excerpt

Reports of spectrum of clinical manifestations in PMP22 gene-associated neuropathies (duplication/mutations) are scarce. To identify the frequency of PMP22 gene variations and establish their genotype-phenotype correlation. Patients with suspected genetic demyelinating neuropathy (n = 128) underwent evaluation for copy number variations and point mutations in PMP22 gene by multiplex ligation-dependent probe...

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PMID: 31993930
DOI: 10.1007/s12031-020-01488-w

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