Mitochondrial Encephalo-neuro-myopathy with Myoclonus Epilepsy, Basal Nuclei Calcification and Hyperlactacidemia

Overview

Journal Ital J Neurol Sci

Specialty Neurology

Date 1988 Feb 1

PMID 3356526

Citations 1

Authors

A Federico

F Cornelio

S Di Donato

E Ederli

G M Fabrizi

L Manneschi

G C GUAZZI

Affiliations

Soon will be listed here.

Abstract

We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.

Citing Articles

Brain Calcifications: Genetic, Molecular, and Clinical Aspects.

Monfrini E, Arienti F, Rinchetti P, Lotti F, Riboldi G Int J Mol Sci. 2023; 24(10).

PMID: 37240341 PMC: 10218793. DOI: 10.3390/ijms24108995.

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