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HS has profound negative effects on patients quality of life, which often culminate in social withdrawal, unemployment, depression and suicidal thoughts

Normal cardiac muscle derives 60-90% of ATP from fatty acid oxidation

They are water-soluble, so they cannot pass directly through cell membranes

5H), sustained transcription of ISR target genes (Fig

Medication Muscle pathology: COX- muscle fibers CNS syndromes Encephalopathy: Recurrent Migraine Spastic paraparesis, Mental retardation & Ophthalmoplegia: 1-base pair insertion (9537C) Lab Serum CK: High or Normal Serum lactate: High Biochemistry: Isolated COX deficiency Pathology Cytochrome c oxidase (COX) activity: Reduced in 90% of muscle fibers SDH positive fibers: Few