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

Affiliations

• ¹ Department of Pediatrics Graduate School of Medicine University of Toyama Toyama Japan.
• ² Department of Pediatrics Ishikawa Prefectural Central Hospital Kanazawa Japan.
• ³ Department of Metabolism Center for Medical Genetics Chiba Children's Hospital Midori-ku Chiba Japan.
• ⁴ Department of Pediatrics University Hospital Salzburg Paracelsus Medical University Salzburg Austria.
• ⁵ Intractable Disease Research Center Graduate School of Medicine Juntendo University Tokyo Japan.
• ⁶ Faculty of Medicine Department of Pediatrics Saitama Medical University Saitama Japan.