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Titolo:
Does the patient have a mitochondrial encephalomyopathy?
Autore:
DiMauro, S; Bonilla, E; De Vivo, DC;
Indirizzi:
Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ New York NY USA 10032 , Dept Neurol, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pediat, New York, NY 10032 USA Columbia Univ New York NY USA 10032 , Dept Pediat, New York, NY 10032 USA
Titolo Testata:
JOURNAL OF CHILD NEUROLOGY
, volume: 14, anno: 1999, supplemento:, 1
pagine: S23 - S35
SICI:
0883-0738(199911)14:<S23:DTPHAM>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYTOCHROME-C-OXIDASE; MATERNALLY INHERITED CARDIOMYOPATHY; COMPLEX-I DEFICIENCY; AUTOSOMAL-DOMINANT; MULTIPLE DELETIONS; MELAS MUTATION; DNA MUTATIONS; GENE; MYOPATHY; DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
55
Recensione:
Indirizzi per estratti:
Indirizzo: DiMauro, S Columbia Univ, Coll Phys & Surg, Dept Neurol, 4-420,630 W 168thSt, New York, NY 10032 USA Columbia Univ 4-420,630 W 168th St New York NY USA 10032 32 USA
Citazione:
S. DiMauro et al., "Does the patient have a mitochondrial encephalomyopathy?", J CHILD NEU, 14, 1999, pp. S23-S35

Abstract

The ubiquitous nature of mitochondria, the dual genetic control of the respiratory chain, and the peculiar rules of mitochondrial genetics contributeto explain the extraordinary clinical heterogeneity of disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). To provide a practical approach to the diagnostic challenge posed by these conditions, we critically review the following criteria: (1) clinicalpresentation; (2) family history; (3) laboratory data; (4) neuroradiologicpatterns; (5) standardized exercise testing; (6) muscle morphology; (7) muscle biochemistry; and (8) molecular genetic screening. Judicious sequential application of these tools should provide help in recognizing patients with mitochondrial disease and define the biochemical and molecular basis of the disorder for each patient. This knowledge is indispensable for accurategenetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 10:01:08