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Article

Clinical phenotype associated with TANGO2 gene mutation.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2021

Hoebeke C, Cano A, De Lonlay P, Chabrol B

Abstract excerpt

The clinical picture associated with a Transport and Golgi Organization 2 (TANGO2) gene bi-allelic mutation is represented by encephalopathy and rhabdomyolysis marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy is diverse and can range from isolated language delay and cognitive impairment in a child to multiple disabilities and spastic quadriparesis. Hypothyroidism...

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PMID: 33342685
DOI: 10.1016/j.arcped.2020.11.004

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