Familial Cardiomyopathy with Cataracts and Lactic Acidosis: A Defect in Complex I (NADH-Dehydrogenase) of the Mitochondria Respiratory Chain
- 1 March 1996
- journal article
- case report
- Published by Springer Nature in Pediatric Research
- Vol. 39 (3) , 513-521
- https://doi.org/10.1203/00006450-199603000-00021
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 37 references indexed in Scilit:
- LacticacidemiaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
- Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11Nature Genetics, 1993
- A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3Nature Genetics, 1993
- The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with LacticacidemiaPediatric Research, 1990
- A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutationPublished by Elsevier ,1990
- A molecular basis for familial hypertrophic cardiomyopathy: An αβ cardiac myosin heavy chain hybrid geneCell, 1990
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionNature, 1989
- Congenital cardiomyopathy and cataracts with lactic acidosisThe American Journal of Cardiology, 1988
- Features of a Syndrome With Congenital Cataract and Hypertrophic CardiomyopathyAmerican Journal of Ophthalmology, 1986
- Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exerciseThe Journal of Pediatrics, 1975