Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation

We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNALys (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral ne...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2009-10, Vol.40 (4), p.648-651
Main Authors: O'Rourke, Killian, Buddles, Mark R., Farrell, Michael, Howley, Rachel, Sukuraman, Sunita, Connolly, Sean, Turnbull, Douglass M., Hutchinson, Michael, Taylor, Robert W.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Body Height
Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction
cytochrome c oxidase
Diseases of striated muscles. Neuromuscular diseases
Electromyography
Electron Transport Complex IV - genetics
Humans
Male
Medical sciences
mitochondrial DNA
Mitochondrial Myopathies - genetics
Mitochondrial Myopathies - physiopathology
mitochondrial myopathy
Muscle Fibers, Skeletal - pathology
Muscle, Skeletal - pathology
Nervous system (semeiology, syndromes)
Neural Conduction
Neurology
Osteoporosis - genetics
Osteoporosis - pathology
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - pathology
Phenotype
Point Mutation - genetics
Point Mutation - physiology
RNA, Transfer, Lys - genetics
single muscle fiber mutation analysis
tRNA mutation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNALys (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic. Muscle Nerve, 2009
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.21342