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Article

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Clinical dysmorphology - 1 Apr 2026

Ahmad Shafeeq, Khan Bushra, Shams Hamza, Sao Go Hun, Gul Ambreen, Khang Rin, Khan Saadullah, Kalsoom Umm-E

Abstract excerpt

BACKGROUND: Autosomal recessive spinocerebellar ataxia-13 is a rare multifactorial disorder characterized by physical disability, cerebellar ataxia, adaptive behavior, intellectual disability, response to sudden noise and light, sensation, skeletal, and oculomotor abnormalities. It affects both males and females equally. So far, only seven variants have been identified in the glutamate metabotropic receptor 1 (...

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Identifiers

PMID: 41649149
DOI: 10.1097/MCD.0000000000000552

Genes

GRM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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