title: A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.
abstract: Limb girdle muscular dystrophy 2H is a rare autosomal recessive muscular dystrophy, clinically highly variable, caused by mutations in the TRIM32 gene. Here we describe a 35-years-old who experienced progressive muscle weakness. The muscle biopsy revealed an unspecific pattern of atrophic and hypertrophic fibers; the immunohistochemistry for several proteins was normal. Comparative genomic hybridization (CGH) analysis showed a heterozygous deletion of the entire TRIM32 gene. On the other allele we identified the R316X nonsense mutation. The genetic diagnosis of LGMD2H in this case was reached by using a novel high throughput diagnostic tool.
authors.affiliation: University of Ferrara, Dept. of Medical Science, Section of Medical Genetics, Ferrara, Italy. nremcl@unife.it
authors.forename: M
authors.initials: M
authors.lastname: Neri
authors.forename: R
authors.initials: R
authors.lastname: Selvatici
authors.forename: C
authors.initials: C
authors.lastname: Scotton
authors.forename: C
authors.initials: C
authors.lastname: Trabanelli
authors.forename: A
authors.initials: A
authors.lastname: Armaroli
authors.forename: D
authors.initials: D
authors.lastname: De Grandis
authors.forename: N
authors.initials: N
authors.lastname: Levy
authors.forename: F
authors.initials: F
authors.lastname: Gualandi
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
mesh_terms: D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics* / Q000378:metabolism; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006579:Heterozygote; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases
chemical_list: D018389:Codon, Nonsense; D014157:Transcription Factors; D000070584:Tripartite Motif Proteins; C094027:TRIM32 protein, human; D044767:Ubiquitin-Protein Ligases