Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy

• Authors: Irena Hausmanowa-Petrusewicz , Jacek Zaremba , Anna Fidzianska , Barbara^nFidzia Badurska , Mariola Bisko , Janina Borkowska , Anna Lusakowska , Janusz Zimowski
• Languages of publication: EN

Abstracts

EN

DNA analysis> was carried out in 113 patiens of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular dystrophies could be established and some unusual pedigrees detected.

Keywords

EN

DYSTROPHIN ANALYSIS; MENTAL DEFICIENCY; X-AUTOSOMAL TRANSLOCATION

Discipline

• EXPERIMENTAL_BIOLOGY_&_MEDICINE: EXPERIMENTAL BIOLOGY & MEDICINE

• Publisher: Marceli Nencki Institute of Experimental Biology, Polish Academy of Sciences
• Journal: Acta Neurobiologiae Experimentalis
• Year: 1993
• Volume: 53
• Issue: 1
• Pages: 297-303

Contributors

author

Irena Hausmanowa-Petrusewicz

author

Jacek Zaremba

author

Anna Fidzianska

author

Barbara^nFidzia Badurska

author

Mariola Bisko

author

Janina Borkowska

author

Anna Lusakowska

author

Janusz Zimowski

• Document Type: paper