Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome

G De Joanna; F M Santorelli; C Casali; V Brescia-Morra; A Perretti; L Santoro

doi:10.1007/s100380050025

Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome

J Hum Genet. 2000;45(2):109-11. doi: 10.1007/s100380050025.

Authors

G De Joanna¹, F M Santorelli, C Casali, V Brescia-Morra, A Perretti, L Santoro

Affiliation

¹ Department of Neurophysiopathology, Federico II University, Napoli, Italy.

PMID: 10721677
DOI: 10.1007/s100380050025

Abstract

We report a patient who manifested a heterogeneous clinical presentation, including hypertrophic cardiomyopathy and hypothyroidism, with initially limited central nervous system involvement, and who harbored the mitochondrial (mt)DNA A3243G mutation. MtDNA analysis also revealed deleted genomes in muscle and blood. This atypical molecular combination may have influenced the clinical phenotype.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Blotting, Southern
Cardiomyopathy, Hypertrophic / genetics*
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Female
Hearing Loss, Bilateral / genetics*
Humans
Hypothyroidism / genetics*
Middle Aged
Mitochondrial Myopathies / genetics*
Mutation, Missense
Pedigree
Point Mutation
Polymerase Chain Reaction
Syndrome

Substances

DNA, Mitochondrial