MERRF

MitochondrialGeneralOMIM 590060

Overview

From WUSTL Neuromuscular

MERRF Genetics Inheritance: Maternal mtDNA point mutations: Heteroplasmic mtRNA Lys (MTTK) : A8344G (Frequent); T8356C; G8363A; G8361A Syndromes: MERRF or MERRF/MELAS overlap More likely inheritance: High mutation frequency in mother Other mitochondrial mtRNA Lys syndromes Cardiomyopathy (G8363A) PEO with myoclonus (G8342A) Deafness & Diabetes (A8296G) Multiple Symmetric Lipomatosis (A8344G) Leigh syndrome (A8344G) Parkinson syndrome, Neuropathy & Myopathy (A8344G) MELAS MNGIE (G8313A) Myopathy (MIMECK) (A8291G) ?? Madras MND (A8302) Genetic counseling: G8344A mutation Mutant load < 35% in mat

OMIM Entries

OMIM #590060 OMIM #590080 OMIM #590085 OMIM #590050 OMIM #590070 OMIM #590045 OMIM #590040 OMIM #590075

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.