Barth syndrome: clinical observations and genetic linkage studies.

Christodoulou, J

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