A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

Brain

Volumn 139, Issue 8, 2016, Pages 2154-2163

  Vissing, John ^a   Barresi, Rita ^b   Witting, Nanna ^a   Van Ghelue, Marijke ^c   Gammelgaard, Lise ^d   Bindoff, Laurence A ^e   Straub, Volker ^b   Lochmüller, Hanns ^b   Hudson, Judith ^f   Wahl, Christoph M ^g   Arnardottir, Snjolaug ^h   Dahlbom, Kathe ⁱ   Jonsrud, Christoffer ^c   Duno, Morten ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^d VIBORG HOSPITAL   (Denmark)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g Hospital Kempten   (Germany)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ Örebro University   (Sweden)

Author keywords

calpain 3; calpainopathy; dominant inheritance

Indexed keywords

CALPAIN 3; CREATINE KINASE; MESSENGER RNA; MYOGLOBIN; CALPAIN; CAPN3 PROTEIN, HUMAN; MUSCLE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY FAT; CAPN3 GENE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GENE; GENE DELETION; GENE EXPRESSION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; MALE; MIDDLE AGED; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; PHYSICAL DISABILITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; VERY ELDERLY; WALKING DIFFICULTY; WESTERN BLOTTING; YOUNG ADULT; DOMINANT GENE; GENETICS; PATHOPHYSIOLOGY;

ADULT; AGED; AGED, 80 AND OVER; CALPAIN; FEMALE; GENE DELETION; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; YOUNG ADULT;

EID: 84982958280     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww133     Document Type: Article

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