Hereditary disorders including mitochondrial diseases

Autor:	R N, Lightowlers
Rok vydání:	1992
Předmět:	Diagnosis Differential Brain Diseases Metabolic Humans Neuromuscular Diseases Syndrome Metabolism Inborn Errors Mitochondria Muscle
Zdroj:	Current opinion in neurology and neurosurgery. 5(3)
ISSN:	0951-7383
Popis:	Correlation between mitochondrial DNA (mtDNA) mutations and biochemical defects associated with several mitochondrial disorders is now possible using cybrid fusions. An understanding of the clinical heterogeneity of many inherited disorders may begin from the observation that different manifestations parallel different mutations in the same gene and, consequently, different activities of the aberrant enzyme in the body.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::6fa1c7be3a4001e20d34a957ce415e43 https://pubmed.ncbi.nlm.nih.gov/1623266 Zobrazit plný text záznamu