Article
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype.
Journal of the neurological sciences - 1 Oct 1995
Morandi L, Mora M, Confalonieri V, Barresi R, Di Blasi C, Brugnoni R, Bernasconi P, Mantegazza R, Dworzak F, Antozzi C
Abstract excerpt
We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testing. Dystrophin expression was analysed by immunohistochemistry and western blot using antibodies...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
