Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. J Neurol Sci 2012 Aug 15;319(1-2):158-63
Date
05/29/2012Pubmed ID
22632780DOI
10.1016/j.jns.2012.05.003Scopus ID
2-s2.0-84862772888 (requires institutional sign-in at Scopus site) 9 CitationsAbstract
We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.
Author List
Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone MAuthor
Michael P. Collins MD Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Electron Transport Complex IVFemale
Humans
Middle Aged
Mitochondrial Myopathies
Muscle Weakness
Muscle, Skeletal
Mutation, Missense
