A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? | Journal of Medical Genetics

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Article info

Letters to the editor

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

Authors

DAVID K SIMON *Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, 77 Avenue Louis Pasteur, Room HIM847, Boston, MA 02115, USA PubMed articles Google scholar articles
MARK A TARNOPOLSKY PubMed articles Google scholar articles
J TIMOTHY GREENAMYRE PubMed articles Google scholar articles
DONALD R JOHNS PubMed articles Google scholar articles

Dr Simon, dsimon1{at}caregroup.harvard.edu

Citation

SIMON DK, TARNOPOLSKY MA, GREENAMYRE JT, et al

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

Journal of Medical Genetics 2001;38:58-61.

Publication history

First published January 1, 2001.

Online issue publication

April 27, 2016

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Journal of Medical Genetics