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A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
Author(s) -
De Coo I. F. M.,
Renier W. O.,
Ruitenbeek W.,
Ter Laak H. J.,
Bakker M.,
Schägger H.,
Van Oost B. A.,
Smeets H. J. M.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199901)45:1<130::aid-art21>3.0.co;2-z
Subject(s) - heteroplasmy , mitochondrial encephalomyopathy , parkinsonism , genetics , mutation , mitochondrial myopathy , mitochondrial dna , cytochrome b , melas syndrome , gene , biology , lactic acidosis , mitochondrial respiratory chain , mitochondrion , microbiology and biotechnology , medicine , pathology , endocrinology , disease
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b ) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS), a novel 4–base pair deletion was identified. This mutation in this highly conserved gene is considered to be pathogenic since it is a heteroplasmic frame shift mutation predicted to lead to a truncated protein. Ann Neurol 1999;45:130–133