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Article

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

American journal of medical genetics. Part A - 1 Feb 2022

Schymick Jennifer, Leahy Peter, Cowan Tina, Ruzhnikov Maura R Z, Gates Ryan, Fernandez Liliana, Pramanik Gopal, Yarlagadda Vamsi, Wheeler Matthew, Bernstein Jonathan A, Enns Gregory M, Lee Chung

Abstract excerpt

Biallelic pathogenic variants in the TANGO2 (transport and Golgi organization 2 homolog) gene have been identified as causing a rare metabolic disorder characterized by susceptibility to recurrent rhabdomyolysis, lactic acidosis, encephalopathy, and life-threatening tachyarrhythmias. Recently published reports suggest variable clinical severity and phenotypes. This study details five new patients from two...

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Identifiers

PMID: 34668327
DOI: 10.1002/ajmg.a.62543

Genes

TANGO2

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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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Variable clinical severity in TANGO2 deficiency: Case series and literature review.PMID 34668327Read ↗

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