Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

Chin Med J (Engl). 2020 Jun 5;133(11):1358-1360. doi: 10.1097/CM9.0000000000000805.

Authors

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
² Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China.

No abstract available

MeSH terms

Cardiomyopathies
China
Humans
Lipid Metabolism, Inborn Errors*
Mitochondrial Myopathies
Mitochondrial Trifunctional Protein / deficiency
Mutation
Nervous System Diseases
Phenotype
Rhabdomyolysis

Substances

Mitochondrial Trifunctional Protein

Supplementary concepts

Trifunctional Protein Deficiency With Myopathy And Neuropathy