ISSN:
1364-6753
Schlagwort(e):
Key words Myotonia congenita
;
Thomsen's disease
;
Becker's generalized myotonia
;
Muscle chloride channel
;
CLCN-1 gene
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
ABSTRACT Myotonia congenita is an inherited muscle disorder characterized by muscle stiffness and hypertrophy. Its clinical phenotype depends, in part, on whether it is inherited as a dominant or recessive trait, respectively designated Thomsen's disease or Becker's generalized myotonia (BGM). In either case, it is associated with abnormalities in the muscle currents that are linked to the gene (CLCN-1) on human chromosome 7q35 encoding the skeletal muscle chloride channel. Single-strand conformation polymorphism analysis was used to screen two families with the BGM for mutations in the CLCN-1 gene. Two new mutations were found (G 201ins and A317Q). The latter mutation has been previously described in Thomsen's disease.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s100480050027
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