MELAS

MitochondrialVariableGeneralOMIM 590050

Overview

From WUSTL Neuromuscular

Clinical Genetics Laboratory Pathology Nosology: Mitochondrial Encephalomyopathy; Lactic Acidosis; Stroke Epidemiology Incidence in children: 1:200,000 Genetics General Common causes: mtDNA point mutations in mtRNA genes Heteroplasmic mutations: Mutant mtDNA proportion ~ 56% to 95% Inheritance Maternal Occasional sporadic & non-inherited mutation (tRNA Leu) Clinical heterogeneity Rare to find more than 1 fully expressed MELAS in same family Maternal relatives often oligo- or asymptomatic Nuclear mutation (Rare): POLG1 Pathogenesis: mtDNA mutation leads to disordered mtDNA synthesis & function

OMIM Entries

OMIM #590050 OMIM #520000 OMIM #590055 OMIM #516050 OMIM #590105 OMIM #590080 OMIM #590070 OMIM #590020 OMIM #590060 OMIM #590040 OMIM #590030 OMIM #516000 OMIM #516002 OMIM #516005 OMIM #516006 OMIM #516020

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.