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Immunohistochemical analysis (CD38 and GLUT1) Paraffin-embedded liver Sects

Optic atrophy Developmental delay Course: Episodic deficits Laboratory Oxidative phosphorylation: Mixed defect Complexes I & IV: Most consistently reduced Complex III: Reduced in some patients Complex II: Usually normal Muscle histology: Normal MRI: High signal in putamen, globus pallidus & brainstem Lactate: High in CSF MTFMT variant: MC1DN27 Epidemiology: 2 patients Genetics Inheritance: Recessive Mutations: Ser209Leu, Arg3322X Clinical: Leigh-like syndrome Laboratory: Complex I deficient Leigh syndrome (COXPD32) 222 Methionyl-tRNA formyltransferase, mitochondrial (MRPS34)

These areas may include the abdomen, thighs, hips, neck, back, arms, knees, calves, and ankles.

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