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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
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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