X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
- 1 June 1999
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 22 (4) , 555-567
- https://doi.org/10.1023/a:1005568609936
Abstract
X‐linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms: Barth syndrome, 3‐methylglutaconic aciduria type II, endocardial fibroelastosis type 2) has been report...Keywords
This publication has 42 references indexed in Scilit:
- X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblastsJournal of Inherited Metabolic Disease, 1996
- 3-Methylglutaconic aciduria: ten new cases with a possible new phenotypeBrain & Development, 1994
- Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaEuropean Journal of Pediatrics, 1993
- Multiple syndromes of 3-methylglutaconic aciduriaPediatric Neurology, 1993
- 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsThe Journal of Pediatrics, 1992
- 3-Methylglutaconic aciduria (3MGA) type IV associated with defects of the respiratory chain and severe neurologic abnormalitiesPediatric Neurology, 1992
- X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduriaThe Journal of Pediatrics, 1991
- Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaThe Journal of Pediatrics, 1991
- Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolismThe Journal of Pediatrics, 1988
- Heredity in primary endocardial fibroelastosis.Heart, 1975