Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

Détails

ID Serval
serval:BIB_42F16407EF5F
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
Titre
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families
Périodique
Muscle and Nerve
Auteur(s)
Kawai  H., Akaike  M., Kunishige  M., Inui  T., Adachi  K., Kimura  C., Kawajiri  M., Nishida  Y., Endo  I., Kashiwagi  S., Nishino  H., Fujiwara  T., Okuno  S., Roudaut  C., Richard  I., Beckmann  J. S., Miyoshi  K., Matsumoto  T.
ISSN
0148-639X (Print)
Statut éditorial
Publié
Date de publication
11/1998
Volume
21
Numéro
11
Pages
1493-501
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Résumé
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38.5+/-2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+-binding domain.
Mots-clé
Age of Onset Biopsy Calpain/*genetics Child DNA Mutational Analysis Exons *Family Health Female Haplotypes Humans Isoenzymes/*genetics Japan Male Microscopy, Electron Middle Aged Muscle Fibers/chemistry/pathology/ultrastructure Muscle Proteins/analysis Muscle, Skeletal/chemistry/*enzymology/pathology Muscular Dystrophies/*genetics/metabolism/*pathology Mutation Pedigree Reverse Transcriptase Polymerase Chain Reaction
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
03/03/2018 16:39
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