title: X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.
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.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: D D
authors.initials: DD
authors.lastname: de Vries
authors.forename: I J
authors.initials: IJ
authors.lastname: de Wijs
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: U P
authors.initials: UP
authors.lastname: Ketelsen
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
mesh_terms: D000241:Adenosine; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004272:DNA, Mitochondrial / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006151:Guanosine; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D004272:DNA, Mitochondrial; D006151:Guanosine; D000241:Adenosine