most common sign in any mitochondrial inheritence diseases?
Correct Answer: external ophthalmoplegia
Description: Mitochondrial diseases * significant clinical and genetic heterogeneity * syndromic and non-syndromic * often multi-system diseases * onset between bih and senescence * a common cause a chronic morbidity and more prevalent than previously thought Common phenotypes in adults PEO-Progressive External Ophthalmoplegia (m/c) K55- Kearns Sayre Syndrome MERRF= Myoclonic Epilepsy with Ragged Red Fibers MELAS= (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes) ref : robbins 10th ed
Category:
Pathology
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