Patent ID: 11931397
Assignee: STEALTH BIOTHERAPEUTICS INC.
Field: Pharmaceuticals (Chemistry)
Classification: CPC A  C | IPC A

Claim 5:
6. The method of claim 5, wherein the Sengers syndrome comprises one or more of cataracts, hypertrophic cardiomyopathy, reduced cardiac function as assessed by ejection fraction, skeletal myopathy, exercise intolerance, lactic acidosis, neutropenia, tachydyspnea, nystagmus, eosinophilia, cervical meningocele, isolated Complex I deficiency, strabismus, hypotonia, hyporeflexia, delayed motor development, reduced AGK expression, reduced mitochondrial levels of glutamate carrier 1 (GC1), reduced mitochondrial levels of adenine nucleotide transporter type 1 (ANT1), reduced mitochondrial levels of adenine nucleotide transporter type 3 (ANT3), reduced mitochondrial levels of phosphate carrier (PiC), and reduced mitochondrial levels of translocase of the inner membrane 22 (TIM22) subunits (hTim22, Tim29, and hTim9).