A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report

A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis , metabolic encephalopathy and cardiac arrhythmia: a case report

Background TANGO2 depletion was found to cause clinically recognizable multi-organ involvement disorder in pediatrics with episodic muscle weakness recurrent rhabdomyolysis, intellectual disability, metabolic encephalomyopathic crises and cardiac arrhythmia. TANGO2 deficiency is also referred to as...

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Bibliographic Details
Main Authors: Zahra Alkhawaja, Salwa M. Alkhalifi, Sahar Tulbah, Zuhair Al-hassnan
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2023-02-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
tango2 transport and golgi organization 2 homolog wes whole exome sequencing vt ventricular tachycardia pvcs premature ventricular contractions
Online Access:https://www.jbcgenetics.com/?mno=163029
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