[Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA]. / Maternalisan öröklôdô diabetes mellitus, nagyothallás, kronikus progressziv ophthalmoplegia externa es myopathia mint az MTDNS A3243G-mutáció következménye.
Orv Hetil
; 149(34): 1593-8, 2008 Aug 24.
Article
en Hu
| MEDLINE
| ID: mdl-18708313
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome are caused mainly by the A3243G mutation of the mitochondrial genome. The A3243G substitution of mitochondrial DNA (mtDNA) is also responsible for various, other clinical phenotypes and syndromes. Here we report the case of a 33-year-old woman, with childhood onset ophthalmoplegia externa, progressive, generalised exercise intolerability, muscle weakness, hypacusis and diabetes mellitus as the symptoms of mitochondrial disease. Genetic analysis of the mitochondrial DNA revealed a heteroplasmic A to G substitution at position 3243 in the tRNS Leu(UUR) gene. In our case the classical MELAS phenotype has not yet appeared, however, some examples show in the literature that maternally inherited diabetes mellitus, progressive hypacusis, progressive ophthalmoplegia externa, exercise intolerance, and myopathy are often linked to as isolated symptoms of A3243G mutation. The phenotype in the family is consistent, the proband's daughter has ptosis, exercise intolerance, and myopathy, too. A brief summary of the different clinical phenotypes associated with A3243G mutation, and of the different mtDNA mutations which can cause chronic progressive ophthalmoplegia externa (CPEO) will also be reviewed in this case report.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Mutación Puntual
/
Oftalmoplejía Externa Progresiva Crónica
/
Sordera
/
Diabetes Mellitus
/
Madres
/
Enfermedades Musculares
Límite:
Adult
/
Female
/
Humans
Idioma:
Hu
Revista:
Orv Hetil
Año:
2008
Tipo del documento:
Article
Pais de publicación:
Hungria