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Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
Author(s) -
Wibrand Flemming,
Ravn Kirstine,
Schwartz Marianne,
Rosenberg Thomas,
Horn Nina,
Vissing John
Publication year - 2001
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/ana.1224
Subject(s) - missense mutation , genetics , cytochrome b , mutation , gene , mitochondrial dna , biology , medicine
Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278.