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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
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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