Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 (MORC2) gene have been described in several axonal p...

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Bibliographic Details
Main Authors: Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Neurology
Subjects:
Charcot–Marie–Tooth
axonal neuropathy
pyramidal signs
white matter abnormalities
MORC2 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.718808/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.718808/full

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