Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q
Détails
ID Serval
serval:BIB_30F280B4BB36
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q
Périodique
American Journal of Human Genetics
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
06/1992
Volume
50
Numéro
6
Pages
1211-7
Notes
Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Résumé
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.
Mots-clé
Cell Line, Transformed Chromosome Banding Chromosome Mapping *Chromosomes, Human, Pair 5 DNA/blood/genetics/isolation & purification Female *Genes, Dominant Genetic Markers Humans Leukocytes/physiology Linkage (Genetics) Male Muscular Dystrophies/*genetics/physiopathology Pedigree Polymorphism, Genetic Repetitive Sequences, Nucleic Acid
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 14:15