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Article

Expanding the Phenotype of Biallelic PIGG Variants: Motor Neuropathy With Peripheral Nerve Hyperexcitability.

American journal of medical genetics. Part A - 1 Jul 2026

de Arruda Sampaio Pedro Henrique Marte, Moreno Cristiane Araujo Martins, di Pace Filipe, Dousseau Gabriella Corrêa, Camelo Clara Gontijo, Schlesinger David, Zanoteli Edmar

Abstract excerpt

Pathogenic variants in PIGG (phosphatidylinositol glycan anchor biosynthesis, class G) disrupt glycosylphosphatidylinositol (GPI) anchoring of cell-surface proteins. Recently, biallelic PIGG variants have been linked to motor neuropathy with conduction block and temporal dispersion, suggesting a role for defective GPI anchoring in peripheral nerve function. We describe a 27-year-old woman carrying a homozygous...

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Identifiers

PMID: 41744056
DOI: 10.1002/ajmg.a.70106

Genes

PIGG
GPI

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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