The Experts below are selected from a list of 372 Experts worldwide ranked by ideXlab platform
Kenneth R Maravilla - One of the best experts on this subject based on the ideXlab platform.
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mr imaging and proton mr spectroscopy in a to g substitution at nucleotide position 3243 of Leucine Transfer RNA
American Journal of Neuroradiology, 1998Co-Authors: James D Bowen, Todd L Richards, Kenneth R MaravillaAbstract:MR imaging of the brain in a 38-year-old woman with mateRNAlly inherited diabetes and deafness (MIDD) showed extensive subcortical and basal ganglia high signal intensity on T2-weighted studies though she was neurologically asymptomatic. High-signal-intensity changes were also seen in the basal ganglia on T1-weighted studies. Proton MR spectroscopy showed increased lactate, an increased choline/creatine ratio, and a decreased N-acetylaspartate/creatine ratio. Our observations suggest that patients with MIDD may have subclinical neurologic dysfunction identifiable by proton MR spectroscopy.
A E Harding - One of the best experts on this subject based on the ideXlab platform.
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mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial dna Leucine Transfer RNA uur gene
QJM: An International Journal of Medicine, 1993Co-Authors: Mary G Sweeney, S Bundey, M Brockington, K R Poulton, J B Winer, A E HardingAbstract:A family exhibited mateRNAl inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probably of respiratory failure. A novel point mutation of mitochondrial DNA, in a Transfer RNA gene at position 3251, was detected in all living affected family members.
Yuichi Goto - One of the best experts on this subject based on the ideXlab platform.
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a subtype of diabetes mellitus associated with a mutation of mitochondrial dna
The New England Journal of Medicine, 1994Co-Authors: Takashi Kadowaki, Hiroko Kadowaki, Y Mori, Kazuyuki Tobe, Ryoichi Sakuta, Yuusuke Suzuki, Y Tanabe, Hiroshi Sakura, Takuya Awata, Yuichi GotoAbstract:Background Several families have been described in which a mutation of mitochondrial DNA, the substitution of guanine for adenine (A-to-G) at position 3243 of Leucine Transfer RNA, is associated with diabetes mellitus and deafness. The prevalence, clinical features, and pathophysiology of diabetes with this mutation are largely undefined. Methods We studied 55 patients with insulin-dependent diabetes mellitus (IDDM) and a family history of diabetes (group 1), 85 patients with IDDM and no family history of diabetes (group 2), 100 patients with non-insulin-dependent diabetes mellitus (NIDDM) and a family history of diabetes (group 3), and 5 patients with diabetes and deafness (group 4) for the mutation. We also studied the prevalence and characteristics of diabetes in 39 patients with a syndrome consisting of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes who were known to have the mutation and 127 of their relatives (group 5). Results We identified 16 unrelated patients w...
James D Bowen - One of the best experts on this subject based on the ideXlab platform.
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mr imaging and proton mr spectroscopy in a to g substitution at nucleotide position 3243 of Leucine Transfer RNA
American Journal of Neuroradiology, 1998Co-Authors: James D Bowen, Todd L Richards, Kenneth R MaravillaAbstract:MR imaging of the brain in a 38-year-old woman with mateRNAlly inherited diabetes and deafness (MIDD) showed extensive subcortical and basal ganglia high signal intensity on T2-weighted studies though she was neurologically asymptomatic. High-signal-intensity changes were also seen in the basal ganglia on T1-weighted studies. Proton MR spectroscopy showed increased lactate, an increased choline/creatine ratio, and a decreased N-acetylaspartate/creatine ratio. Our observations suggest that patients with MIDD may have subclinical neurologic dysfunction identifiable by proton MR spectroscopy.
Mary G Sweeney - One of the best experts on this subject based on the ideXlab platform.
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mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial dna Leucine Transfer RNA uur gene
QJM: An International Journal of Medicine, 1993Co-Authors: Mary G Sweeney, S Bundey, M Brockington, K R Poulton, J B Winer, A E HardingAbstract:A family exhibited mateRNAl inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probably of respiratory failure. A novel point mutation of mitochondrial DNA, in a Transfer RNA gene at position 3251, was detected in all living affected family members.