Barth syndrome: clinical observations and genetic linkage studies. [electronic resource]
- American journal of medical genetics Apr 1994
- 255-64 p. digital
Publication Type: Case Reports; Journal Article
0148-7299
10.1002/ajmg.1320500309 doi
Abnormalities, Multiple--genetics Acids--urine Cardiomyopathy, Dilated--genetics Carnitine--metabolism Diseases in Twins Dwarfism--genetics Electron Transport Fasting--blood Genes, Recessive Genetic Linkage Heart Failure--genetics Hematopoiesis Humans Hypertrophy, Left Ventricular--genetics Infant, Newborn Male Mitochondria, Muscle--enzymology Mitochondrial Myopathies--genetics Muscles--pathology Neuromuscular Diseases--genetics Neutropenia--genetics Pedigree Syndrome X Chromosome