X-linked Myoclonus Epilepsy Explained As a Maternally Inherited Mitochondrial Disorder

Overview

Journal Hum Genet

Specialty Genetics

Date 1993 Mar 1

PMID 8454287

Citations 1

Authors

D D de Vries

I J de Wijs

G Wolff

U P Ketelsen

H H Ropers

B A van Oost

Affiliations

Soon will be listed here.

Abstract

A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now identified a mitochondrial A-->G (8344) heteroplasmic point mutation. This point mutation has been described in families with maternally inherited myoclonus epilepsy and ragged red fibers. The degree of severity of the disorder in the different family members was reflected in the relative quantity of mutated mitochondrial DNA. It is concluded that the mode of inheritance in this family is not X-linked but maternal.

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