New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods

Clinical Chemistry

Volumn 48, Issue 5, 2002, Pages 772-775

  Schuelke, Markus ^a   Detjen, Anne ^a   Van den Heuvel, Lambert ^a   Korenke, Christoph ^a   Janssen, Antoon ^a   Smits, Arie ^a   Trijbels, Frans ^a   Smeitink, Jan ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ANALYTIC METHOD; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY STUDY; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; RESPIRATORY CHAIN; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0036229996     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/48.5.772     Document Type: Article

References (8)

1. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle
2. The use of chorionic villi in prenatal diagnosis of mitochondriopathies
3. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
4. The genetics and pathology of oxidative phosphorylation
5. Conservation of sequences of subunits of mitochondrial complex I and their relationship with other proteins
6. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
7. Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: Efficacy and potential pitfalls
8. Comparison of cell cultures chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique