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Article

A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.

Revue neurologique - 1 Oct 2023

Ait El Cadi C, Dafrallah L, Amalou G, Charif M, Charoute H, Araqi-Houssaini A, Lakhiari H, Lenaers G, Barakat A

Abstract excerpt

Hereditary neurological disorders represent a wild group of hereditary illnesses affecting mainly the nervous system, the majority of which have a Mendelian inheritance pattern. Here we present the case of two Moroccan patients each affected by a different hereditary neurological disorder. In the first patient WES analysis revealed the presence of the p.Ser72Leu de novo mutation in the PMP22 gene reported for the...

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PMID: 37296061
DOI: 10.1016/j.neurol.2023.01.728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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