Calpain-3 deficiency causes a mild muscular dystrophy in childhood

Details

Serval ID
serval:BIB_C0C06B09C837
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Calpain-3 deficiency causes a mild muscular dystrophy in childhood
Journal
Neuropediatrics
Author(s)
Topaloglu  H., Dincer  P., Richard  I., Akcoren  Z., Alehan  D., Ozme  S., Caglar  M., Karaduman  A., Urtizberea  J. A., Beckmann  J. S.
ISSN
0174-304X (Print)
Publication state
Published
Issued date
08/1997
Volume
28
Number
4
Pages
212-6
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Abstract
Among our 20 families with LGMD2, 10 were documented to have muscle-specific calcium-activated neutral protease 3 (calpain-3) deficiency. Consanguinity was present in all. The current ages of the index cases were between 12 and 23 years, and there were additional nine members affected. Clinically, the patients showed mild courses; none of the cases below age 30 lost autonomy so far. The dystrophy is mainly proximal and atrophic with calf enlargement and scapular wasting in some. In three cases walking was delayed. Creatine kinase levels were at least 10 times elevated. All obligate carriers had normal creatine kinase levels. Five families shared the same 551 delA frameshift mutation. In four of these families there was the same core haplotype, whereas one was distinct suggesting an independent origin. Calpain-3 deficiency in general is a mild muscular dystrophy during childhood.
Keywords
Adolescent Adult Age of Onset Calpain/*deficiency/genetics Child Cohort Studies Consanguinity Disease Progression Female Frameshift Mutation Haplotypes Humans Male Muscular Dystrophies/*enzymology/genetics Pedigree Severity of Illness Index
Pubmed
Web of science
Create date
25/01/2008 16:17
Last modification date
20/08/2019 15:35
Usage data