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Article

Expansion of the genetic landscape of ERLIN2-related disorders.

Annals of clinical and translational neurology - 1 Apr 2020

Srivastava Siddharth, D'Amore Angelica, Cohen Julie S, Swanson Lindsay C, Ricca Ivana, Pini Antonella, Fatemi Ali, Ebrahimi-Fakhari Darius, Santorelli Filippo M

Abstract excerpt

ERLIN2-related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in one child. One further subject had a de novo p.Gln63Lys and one...

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PMID: 32147972
DOI: 10.1002/acn3.51007
PMCID: PMC7187699

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