Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite

Teerin Liewluck, Jennifer A. Tracy, Eric J. Sorenson, Andrew G. Engel

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)133-138
Number of pages6
JournalNeuromuscular Disorders
Volume23
Issue number2
DOIs
StatePublished - Feb 2013

Keywords

  • Hutterite
  • Limb-girdle muscular dystrophy
  • Sarcotubular myopathy
  • Scapuloperoneal muscular dystrophy
  • TRIM32
  • Vacuolar myopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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