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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
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‐P...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406168/ https://www.ncbi.nlm.nih.gov/pubmed/30899493 http://dx.doi.org/10.1002/ccr3.2050 |
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| author | Hirono, Keiichi Ichida, Fukiko Nishio, Natsuhito Ogawa‐Tominaga, Minako Fushimi, Takuya Feichtinger, Rene′ G. Mayr, Johannes A. Kohda, Masakazu Kishita, Yoshihito Okazaki, Yasushi Ohtake, Akira Murayama, Kei |
| author_facet | Hirono, Keiichi Ichida, Fukiko Nishio, Natsuhito Ogawa‐Tominaga, Minako Fushimi, Takuya Feichtinger, Rene′ G. Mayr, Johannes A. Kohda, Masakazu Kishita, Yoshihito Okazaki, Yasushi Ohtake, Akira Murayama, Kei |
| author_sort | Hirono, Keiichi |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6406168 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-64061682019-03-21 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 Hirono, Keiichi Ichida, Fukiko Nishio, Natsuhito Ogawa‐Tominaga, Minako Fushimi, Takuya Feichtinger, Rene′ G. Mayr, Johannes A. Kohda, Masakazu Kishita, Yoshihito Okazaki, Yasushi Ohtake, Akira Murayama, Kei Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-02-07 /pmc/articles/PMC6406168/ /pubmed/30899493 http://dx.doi.org/10.1002/ccr3.2050 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports Hirono, Keiichi Ichida, Fukiko Nishio, Natsuhito Ogawa‐Tominaga, Minako Fushimi, Takuya Feichtinger, Rene′ G. Mayr, Johannes A. Kohda, Masakazu Kishita, Yoshihito Okazaki, Yasushi Ohtake, Akira Murayama, Kei 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406168/ https://www.ncbi.nlm.nih.gov/pubmed/30899493 http://dx.doi.org/10.1002/ccr3.2050 |
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