Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.
The A-to-G mutation at position 8344 in the transfer RNAlysine mitochondrial DNA gene is associated mostly with the myoclonic epilepsy and ragged red fibers syndrome. We describe a five-generation family with this mutation and 19 affected members with a variant neurologic syndrome of ataxia, myopathy, hearing loss, and neuropathy. Along with axial lipomas and diabetes mellitus, hypertension is a frequent somatic feature, suggesting that mitochondrial mutations may contribute to hypertension in these patients.
Austin
S A
SA
Department of Neurology, University of Texas Medical School, Houston, USA.
Vriesendorp
F J
FJ
Thandroyen
F T
FT
Hecht
J T
JT
Jones
O T
OT
Johns
D R
DR
D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006801:Humans; D006973:Hypertension / Q000235:genetics; D008067:Lipoma / Q000235:genetics / Q000473:pathology; D017243:MERRF Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012357:RNA, Transfer, Lys / Q000235:genetics*
D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys