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Journal of Medical Genetics logoLink to Journal of Medical Genetics
letter
. 2001 Jan;38(1):58–61. doi: 10.1136/jmg.38.1.58

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

D SIMON, M TARNOPOLSKY, J GREENAMYRE, D JOHNS
PMCID: PMC1734714  PMID: 11332403

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