Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mitochondrial tRNA(Ala) gene. This 5591G>A transition is heteroplasmic, segregates with cytochrome c oxidase deficiency in single muscle fibers, and fulfills recognized criteria for pathogenicity. This case exemplifies the wide-ranging clinical spectrum of mitochondrial disease presentations.
Swalwell
H
H
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK.
Deschauer
M
M
Hartl
H
H
Strauss
M
M
Turnbull
D M
DM
Zierz
S
S
Taylor
R W
RW
D003402:Creatine Kinase / Q000097:blood; D015444:Exercise; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D010146:Pain / Q000209:etiology; D012344:RNA, Transfer, Ala; D013577:Syndrome
D012344:RNA, Transfer, Ala; D003402:Creatine Kinase