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Article

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

American journal of medical genetics. Part A - 1 May 2020

Markovitz Rebecca, Ghosh Rajarshi, Kuo Molly E, Hong William, Lim Jaehyung, Bernes Saunder, Manberg Stephanie, Crosby Kathleen, Tanpaiboon Pranoot, Bharucha-Goebel Diana, Bonnemann Carsten, Mohila Carrie A, Mizerik Elizabeth, Woodbury Suzanne, Bi Weimin, Lotze Timothy, Antonellis Anthony, Xiao Rui, Potocki Lorraine

Abstract excerpt

The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA-like disorders that are independent of SMN1, including those due to pathogenic variants in the glycyl-tRNA synthetase gene (GARS1). We report three unrelated patients with de novo variants in GARS1 that are associated with infantile-onset SMA (iSMA)....

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Share to Charcot-Marie-Tooth Disease
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to Muscular Atrophy, Spinal

Share to Mutation, Missense

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Source

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Identifiers

PMID: 32181591
DOI: 10.1002/ajmg.a.61544
PMCID: PMC8297662

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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