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Titolo:
Molecular biological diagnostics of metabolic myopathies
Autore:
Schmiedel, J; Seibel, P; Reichmann, H;
Indirizzi:
Univ Klin Carl Gustav Carus, Neurol Klin & Poliklin, Dresden, Germany UnivKlin Carl Gustav Carus Dresden Germany Poliklin, Dresden, Germany
Titolo Testata:
AKTUELLE NEUROLOGIE
fascicolo: 5, volume: 28, anno: 2001,
pagine: 208 - 213
SICI:
0302-4350(200106)28:5<208:MBDOMM>2.0.ZU;2-#
Fonte:
ISI
Lingua:
GER
Soggetto:
MITOCHONDRIAL-DNA; POINT MUTATIONS; DELETIONS; DISEASE; MUSCLE; MELAS; MERRF; PCR;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Schmiedel, J Forsch Grp Neurobiochem & Zellbiol, Fetscherstr 74, D-01307 Dresden, Germany Forsch Grp Neurobiochem & Zellbiol Fetscherstr 74 Dresden Germany D-01307
Citazione:
J. Schmiedel et al., "Molecular biological diagnostics of metabolic myopathies", AKT NEUROL, 28(5), 2001, pp. 208-213

Abstract

The group of metabolic myopathies includes glycogen storage diseases, lipid storage diseases and mitochondrial diseases. While diagnostics of glycogen and lipid storage diseases is done biochemically, most mitochondrial disorders can be diagnosed by genetical characterisation. Mitochondrial disorders are rare diseases, caused by alterations of the mitochondrial respiratory chain. Most frequently the defects are caused by mutations of the mitochondrial DNA. These can be divided into length variations (deletions, duplications) and DNA point mutations. Mostly they are maternally inherited, but sporadically appearing diseases are found as well. For the detection of deletions and duplications, southern blotting is commonly used, while point mutations are recognized by polymerase chain reaction in daily diagnostics. Crucial for successful examinations is first to find a reasonable tentative diagnosis and then the choice of the suitable tissue for the assay.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 09:32:03