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
Auteur(s)
Speer  M. C., Yamaoka  L. H., Gilchrist  J. H., Gaskell  C. P., Stajich  J. M., Vance  J. M., Kazantsev  A., Lastra  A. A., Haynes  C. S., Beckmann  J. S., Cohen  D., Weber  J. L., Roses  A. D., Pericakvance  M. A.
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 16:18
Dernière modification de la notice
20/08/2019 13:15
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