[Quadriceps myopathy as dystrophin-associated myopathy].
Duchenne and Becker muscular dystrophy are both caused by a deletion in the dystrophin gene. In the past few years, many reports of atypical myopathies have been published where an association with a deletion within the same gene was found. We report one sporadic and one familial case of myopathy where we were able to demonstrate a deletion of the dystrophin locus using DNA analysis.
von Mitzlaff
H C
HC
Neurologische Klinik und Poliklinik, Universität Bern.
Liechti-Gallati
S
S
Rösler
K M
KM
Burgunder
J M
JM
D000328:Adult; D001706:Biopsy; D004247:DNA / Q000032:analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology
D016189:Dystrophin; D004247:DNA
Die Quadrizepsmyopathie als Dystrophin-assoziierte Myopathie.