Article
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.
Human genetics - 1 Mar 1993
de Vries D D, de Wijs I J, Wolff G, Ketelsen U P, Ropers H H, van Oost B A
Abstract excerpt
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...
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