mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.
Pediatr Neurol
; 18(5): 429-31, 1998 May.
Article
en En
| MEDLINE
| ID: mdl-9650685
ABSTRACT
A 14-year-old girl presented with a 3-month history of easy fatigue and exercise intolerance, especially when climbing stairs. She had a mild ptosis and mild limitation of upward gaze. Her puberty was delayed, and she manifested hypogonadotrophic hypogonadism. Serum lactic and pyruvic acids were elevated. Cranial magnetic resonance imaging was normal. Muscle biopsy documented typical ragged-red fibers. A point mutation at nucleotide 3243 in the tRNALeu(UUR) (typical mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation) was detected in mitochondrial DNA from both blood and muscle tissues, indicating that our patient was suffering from a mitochondrial myopathy. Hypogonadism may be a manifestation of the MELAS nucleotide 3243 mutation.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Mutación Puntual
/
Síndrome MELAS
/
Hipogonadismo
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
1998
Tipo del documento:
Article
País de afiliación:
Turquía