Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

Neuromuscular Disorders

Volumn 16, Issue 7, 2006, Pages 432-436

  Müller, Juliane S ^a   Piko, Henriett ^b   Schoser, Benedikt G H ^a   Schlotter Weigel, Beate ^a   Reilich, Peter ^a   Gürster, Stefanie ^a   Born, Christine ^a   Karcagi, Veronika ^b   Pongratz, Dieter ^a   Lochmüller, Hanns ^a   Walter, Maggie C ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

Author keywords

Autosomal recessive; CAV3; LGMD1C; Splice site

Indexed keywords

CAVEOLIN 3;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB WEAKNESS; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PELVIC GIRDLE; PRIORITY JOURNAL; RNA SPLICING;

BASE SEQUENCE; BIOPSY; CAVEOLIN 3; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; RNA SPLICE SITES;

EID: 33746222869     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.04.006     Document Type: Article

References (11)

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