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Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
- Source :
- Clinical Case Reports, Vol 7, Iss 3, Pp 553-557 (2019)
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- Key Clinical Message We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3‐MGA, and BN‐PAGE/Western blotting analysis and ETC. activity confirmed complex V deficiency.
- Subjects :
- cardiomyopathy
mitochondrial disease
TMEM70
Medicine
Medicine (General)
R5-920
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 7
- Issue :
- 3
- Database :
- Directory of Open Access Journals
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.1fd8304463224b94aef250141e1ac900
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/ccr3.2050