1
40
2
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">http://doi.org/10.1002/mus.10507</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Prevalence and progression of mitochondrial diseases: a study of 50 patients
Publisher
An entity responsible for making the resource available
Muscle & Nerve
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Female; Humans; Male; Adult; Aged; Middle Aged; Disease Progression; Survival Analysis; Phenotype; adolescent; IM; Age of Onset; Electromyography; Chronic Progressive External/ep [Epidemiology]; Chronic Progressive External/ge [Genetics]; Chronic Progressive External/pa [Pathology]; DNA; Epilepsies; Lactic Acid/bl [Blood]; MELAS Syndrome/ep [Epidemiology]; MELAS Syndrome/ge [Genetics]; MELAS Syndrome/pa [Pathology]; Mitochondrial Diseases/ep [Epidemiology]; Mitochondrial Diseases/ge [Genetics]; Mitochondrial Diseases/pa [Pathology]; Mitochondrial/ge [Genetics]; Muscle; Myoclonic/ep [Epidemiology]; Myoclonic/ge [Genetics]; Myoclonic/pa [Pathology]; Neural Conduction/ph [Physiology]; Ophthalmoplegia; Skeletal/pa [Pathology]; Spain/ep [Epidemiology]
Creator
An entity primarily responsible for making the resource
Arpa J; Cruz-Martinez A; Campos Y; Gutierrez-Molina M; Garcia-Rio F; Perez-Conde C; Martin MA; Rubio JC; Del Hoyo P; Arpa-Fernandez A; Arenas J
Description
An account of the resource
We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed a large variety of abnormalities in molecular biology and biochemistry. The prevalence of mitochondrial diseases was found to be 5.7 per 100,000 in the population over 14 years of age. Clinical and electrophysiological assessment reveal signs of neuropathy in 10 patients. Electromyographic findings consistent with myopathy were obtained in 37 cases. Six patients died of medical complications. Disease phenotype influenced survival to some degree (P < 0.01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/mus.10507" target="_blank" rel="noreferrer">10.1002/mus.10507</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adolescent
Adult
Age of Onset
Aged
Arenas J
Arpa J
Arpa-Fernandez A
Backlog
Campos Y
Chronic Progressive External/ep [Epidemiology]
Chronic Progressive External/ge [Genetics]
Chronic Progressive External/pa [Pathology]
Cruz-Martinez A
Del Hoyo P
Disease Progression
DNA
Electromyography
Epilepsies
Female
Garcia-Rio F
Gutierrez-Molina M
Humans
IM
Journal Article
Lactic Acid/bl [Blood]
Male
Martin MA
MELAS Syndrome/ep [Epidemiology]
MELAS Syndrome/ge [Genetics]
MELAS Syndrome/pa [Pathology]
Middle Aged
Mitochondrial Diseases/ep [Epidemiology]
Mitochondrial Diseases/ge [Genetics]
Mitochondrial Diseases/pa [Pathology]
Mitochondrial/ge [Genetics]
Muscle
Muscle & Nerve
Myoclonic/ep [Epidemiology]
Myoclonic/ge [Genetics]
Myoclonic/pa [Pathology]
Neural Conduction/ph [Physiology]
Ophthalmoplegia
Perez-Conde C
Phenotype
Rubio JC
Skeletal/pa [Pathology]
Spain/ep [Epidemiology]
Survival Analysis
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31841</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Cerebrovascular Circulation; Q3 Literature Search; Acyl-CoA Dehydrogenase/deficiency/genetics; Brain/blood supply/physiopathology; Leu/genetics; Magnetic Resonance Angiography; MELAS Syndrome/ge [Genetics]; Point Mutation; RNA; Transfer
Creator
An entity primarily responsible for making the resource
Longo N; Schrijver I; Vogel H; Pique LM; Cowan TM; Pasquali M; Steinberg GK; Hedlund GL; Ernst SL; Gallagher RC; Enns GM
Description
An account of the resource
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">10.1002/ajmg.a.31841</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2008
Acyl-CoA Dehydrogenase/deficiency/genetics
American Journal Of Medical Genetics.Part A
Backlog
Brain/blood supply/physiopathology
Cerebrovascular Circulation
Child
Cowan TM
Enns GM
Ernst SL
Female
Gallagher RC
Hedlund GL
Humans
Journal Article
Leu/genetics
Longo N
Magnetic Resonance Angiography
MELAS Syndrome/ge [Genetics]
Pasquali M
Pique LM
Point Mutation
Q3 Scoping Review Results
RNA
Schrijver I
Steinberg GK
Transfer
Vogel H