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Neuroradiological Features of Six Kindreds with MELAS tRNA(Leu) A3243G Point Mutation: Implications for Pathogenesis
JNNP 65:233-240, Sue,C.M.,et al, 1998
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Article Abstract
These radiological findings, when considered in the context of the clinical and pathological findings, seem to reflect two major disease processes; an intermittent abrupt loss of function associated with cell injury from which there is at le ast partial recovery and a slowly progressive degenerative process causing basal ganglia calcification, and cerebral and cerebellar atrophy. The clinical and radiological features resulting from these processes are distinctive and provide insight into th e consequences of mitochondrial dysfunction on the brain.
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basal ganglia,calcification of
calcification,intracranial
CAT scan
CAT scan,abnormal
cerebellar atrophy,secondary
cerebellar degeneration
cerebellar lesion
cerebral cortical atrophy
fourth ventricle,enlargement of
MELAS syndrome
mitochondrial disease
neuropathology
neuroradiology
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