Novel mitochondrial DNA variant that may give a false positive diagnosis for the T8993c mutation

Molecular Diagnosis

Volumn 3, Issue 2, 1998, Pages 113-117

  White, Sarah L ^a   Thorburn, David R ^a   Christodoulou, John ^b   Dahl, Hans Henrik M ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

And retinitis pigmentosa (NARP) mutation; Ataxia; Neurogenic muscle weakness; Point mutation detection; Restriction endonuclease based diagnostic testing

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; ATAXIA; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST; DNA SEQUENCE; FAMILY HISTORY; HUMAN; LACTIC ACIDOSIS; LEIGH DISEASE; MALE; MUSCLE CRAMP; MUSCLE WEAKNESS; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETINITIS PIGMENTOSA;

EID: 0031803120     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1084-8592(98)80059-3     Document Type: Article

References (2)

1. De Vries DD, van Engelen BGM, Gabreels FJM, van Oost BA: A second missense mutation in the mitochondrial ATPaseo gene in Leigh's syndrome. Ann Neurol 1993;34:410-412
2. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433