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Article

Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Clinical genetics - 1 Dec 2021

Kotecha Udhaya, Mistri Mehul, Shah Nidhi, Shah Parth S, Gupta Vandana A

Abstract excerpt

GOGLA2/GM130 is a Golgin protein involved in vesicle tethering, cell proliferation and autophagy. Recessive loss of function mutation in GOLGA2 has been previously reported in a single family with muscular dystrophy and microcephaly. Here we describe a second consanguineous family with the bi-allelic loss of function mutations in GOLGA2. The patient exhibits microcephaly, seizures, and myopathy similar to the...

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Identifiers

PMID: 34424553
DOI: 10.1111/cge.14053

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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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