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Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Archives of Iranian medicine - 1 Jul 2020

Taghizadeh Sara, Vazehan Raheleh, Beheshtian Maryam, Sadeghinia Farnaz, Fattahi Zohreh, Mohseni Marzieh, Arzhangi Sanaz, Nafissi Shahriar, Kariminejad Ariana, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

BACKGROUND: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and other clinically and genetically inherited neuropathies. There are...

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PMID: 32657593
DOI: 10.34172/aim.2020.39

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