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Article

Bi-allelic loss of function variant in the NRCAM gene is associated with motor-predominant axonal polyneuropathy; the second report.

Molecular genetics & genomic medicine - 1 Apr 2023

Elahi Zohreh, Soveyzi Mohamad, Nafissi Shahriar, Nilipour Yalda, Goleyjani Moghadam Masoumeh, Keshavarz Elham, Kariminejad Ariana, Najmabadi Hossein, Fattahi Zohreh

Abstract excerpt

BACKGROUND: The role of biallelic variants in the NRCAM gene underlying a neurodevelopmental disorder has been defined recently. The phenotype is mainly recognized by varying severity of global developmental delay/intellectual disability, hypotonia, spasticity, and peripheral neuropathy. METHODS: Here, we describe a patient with an initial diagnosis of motor-predominant axonal polyneuropathy or a form of distal...

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PMID: 36606341
DOI: 10.1002/mgg3.2131
PMCID: PMC10094081

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