Survey
* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project
Download 28498.pdf
Document related concepts
no text concepts found
Transcript
Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 28498 mitochondrial myopathy, lethal infantile Eponyms: Inheritance: LIMM mitochondrial Semeiological Metabolic-muscular disorder. Lethal infantile myopathy, lactic acidosis, hypotonia, severe respiratory distress. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomyopathy heart failure mitochondrial cardiomyopathy LABORATORY DATA biochemical markers metabolic defect plasma nonprotein-organic constituents, anomalies lactic acidosis, lacticacidemia plasma proteins, anomalies organic acid disorders tissue, biochemical changes lethality, in metabolic/immunological/environmental disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mitochondrial defects mitochondrial respiratory chain complex I defect mitochondrial respiratory chain complex IV defect MUSCULAR DISEASES muscular defects, distrectual lethality, in neuromuscular disorders systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy, myopathy NEUROLOGICAL DISORDERS performance changes, not including mental retardation stupor, lethargy, including coma OTHERS inheritance inheritance, mitochondrial Super group: Super aggreg. LETHALITY lethality, in metabolic/immunological/environmental disorders Aggregations: lethality, in neuromuscular disorders METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis organic acid disorders MITOCHONDRIAL DISORDERS mitochondrial myopathies, cardiomyopathies, encephalomyopathies MUSCULAR DISORDERS muscular dystrophy, myopathy Differential diagnosis: 27696 Agamanolis syndrome 2068 Appenzeller-Kornfeld-Atkinson syndrome 9107 GRACILE syndrome mitochondrial myopathy, lethal infantile Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 28673 13825 14560 28660 15365 16220 8575 7496 16805 29301 28798 16806 16807 16808 16809 16811 17635 28656 7608 27917 Kamijo disease Kearns-Sayre syndrome Leigh disease, autosomal recessive Leigh syndrome, French-Canadian type Lyon encephalopathy Menkes syndrome methylglutaconicaciduria II mitochondrial DNA depletion syndrome mitochondrial respiratory chain complex I defect mitochondrial respiratory chain complex I defect, subunit 4 mitochondrial respiratory chain complex I defect, subunit 6 mitochondrial respiratory chain complex II defect mitochondrial respiratory chain complex III defect mitochondrial respiratory chain complex IV defect mitochondrial respiratory chain complex IV defect benign infantile mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre myopathy, metabolic cytochrome c-oxidase deficiency oxoglutaricaciduria Roe disease succinic acidemia Aggregation(s) [in differential diagnosis]: - metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis Bibliography Biochem.Biophys.Res.Commun.176,1112-1115,1991 OMIM ID: 551000 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.236238,2007 mitochondrial myopathy, lethal infantile Page 2 of 2
