Title: | A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy |
Journal : | Brain : a journal of neurology, 139, Pt8 |
Authors: | Vissing J, Author ; Barresi R ; Witting N ; van Ghelue M ; Gammelgaard L ; Bindoff LA ; Straub V ; Lochmuller H ; Hudson J ; Wahl CM ; Arnardottir S ; Dahlbom K ; Jonsrud C ; Duno M |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 2154 |
Languages: | English |
Keywords : | autosomal dominant inheritance ; autosomal dominant limb girdle muscular dystrophy ; calpain 3 ; calpain-3-related limb-girdle muscular dystrophy R1 ; calpainopathy ; CAPN3 gene ; clinical presentation ; cohort studies ; diagnosis ; Europe (geography) ; genotype-phenotype correlation ; heterozygotes ; limb girdle muscular dystrophy |
Keywords: | calpain 3 ; calpainopathy ; dominant inheritance ; |
Abstract: |
Comment in:
Dominant LGMD2A: alternative diagnosis or hidden digenism? [Brain. 2017] Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism? [Brain. 2017] |
Pubmed / DOI : | DOI : 10.1093/brain/aww133 / Pubmed : 27259757 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27259757 |
See also : |