title: Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
abstract: Scapuloperoneal muscular dystrophy is a group of genetically heterogeneous disorders that share the phenotype of progressive weakness of scapular and anterior distal leg muscles. Recessive mutations in C-terminal domains of TRIM32 result in limb-girdle muscular dystrophy 2H and sarcotubular myopathy, a rare congenital myopathy commonly seen in Hutterites. A scapuloperoneal phenotype has never been reported in sarcotubular myopathy. We here report a 23-year-old Hutterite man with a one-year history of progressive weakness predominantly involving the anterior tibial and left scapular muscles, and hyperCKemia. Biopsy of the anterior tibial muscle showed an active myopathy with non-rimmed vacuoles and mild denervation atrophy associated with reinnervation. The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G>A mutation at homozygosity. A search for mutations in TRIM32 should be considered in patients with scapuloperoneal muscular dystrophy, and especially in patients of Hutterite origin or with an atypical vacuolar myopathy.
authors.affiliation: Department of Neurology, University of Colorado Denver School of Medicine, Anschutz Medical Campus, 12631 East 17th Avenue, Aurora, CO 80045, USA. teerin.liewluck@ucdenver.edu
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Tracy
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Sorenson
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
mesh_terms: D001706:Biopsy; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000208:ethnology / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000209:etiology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013023:South Dakota / Q000453:epidemiology; D014157:Transcription Factors / Q000235:genetics*; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
chemical_list: D014157:Transcription Factors; D000070584:Tripartite Motif Proteins; C094027:TRIM32 protein, human; D044767:Ubiquitin-Protein Ligases