Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference22 articles.
1. Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to Bi-allelic TANGO2 mutations;Lalani;Am J Hum Genet,2016
2. Variable clinical severity in TANGO2 deficiency: case series and literature review;Schymick;Am J Med Genet,2021
3. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria;Milev;J Inherit Metab Dis,2021
4. Mitochondrial dysfunction associated with TANGO2 deficiency;Heiman;Sci Rep,2022
5. TANGO2-related metabolic encephalopathy and arrhythmias;Lalani;GeneReviews®,2018
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