Bibliographic Details
| Title: |
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 |
| Authors: |
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama |
| Source: |
Clinical Case Reports, Vol 7, Iss 3, Pp 553-557 (2019) |
| Publisher Information: |
Wiley, 2019. |
| Publication Year: |
2019 |
| Collection: |
LCC:Medicine
LCC:Medicine (General) |
| Subject Terms: |
cardiomyopathy, mitochondrial disease, TMEM70, Medicine, Medicine (General), R5-920 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2050-0904 |
| Relation: |
https://doaj.org/toc/2050-0904 |
| DOI: |
10.1002/ccr3.2050 |
| Access URL: |
https://doaj.org/article/1fd8304463224b94aef250141e1ac900 |
| Accession Number: |
edsdoj.1fd8304463224b94aef250141e1ac900 |
| Database: |
Directory of Open Access Journals |
