Muscle mitochondria investigation in myotonic dystrophy.
Eur Neurol
; 33(6): 423-7, 1993.
Article
en En
| MEDLINE
| ID: mdl-8307063
Mitochondrial abnormalities have been previously reported in some patients with myotonic dystrophy (DM). The aim of the present paper was to study muscle mitochondria in 32 DM patients by morphological, biochemical (when suggested by morphology) and genetic analysis. A single ragged red fiber, but no cytochrome c oxidase-negative fibers were found in the muscle specimen of 1 patient. However, mitochondrial enzyme activities resulted within the normal range. An electron microscopy study showed no significant mitochondrial changes. Southern blot analysis did not reveal any mitochondrial DNA heteroplasmy in all 32 patients. An explanation for the discordant results between this study and some previous reports of mitochondrial alterations in DM might be that their occasional presence is not related to the disease but to ageing. Another possibility is that among patients with a myotonic dystrophy phenotype, a small subgroup of subjects with a mitochondrial disease may exist and be differentiated.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mitocondrias Musculares
/
Distrofia Miotónica
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Eur Neurol
Año:
1993
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Suiza