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: Teerin Liewluck, Jennifer A Tracy, Eric J Sorenson, Andrew G Engel
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 23 Issue 2 Pg. 133-8 (Feb 2013) ISSN: 1873-2364 [Electronic] England
• PMID: 23142638 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright © 2012 Elsevier B.V. All rights reserved.

Chemical References

• Transcription Factors
• Tripartite Motif Proteins
• TRIM32 protein, human
• Ubiquitin-Protein Ligases

Topics

• Biopsy
• Humans
• Male
• Muscle, Skeletal (pathology, physiopathology)
• Muscular Dystrophies, Limb-Girdle (complications, ethnology, genetics)
• Muscular Dystrophy, Emery-Dreifuss (etiology, physiopathology)
• Mutation (genetics)
• Phenotype
• South Dakota (epidemiology)
• Transcription Factors (genetics)
• Tripartite Motif Proteins
• Ubiquitin-Protein Ligases
• Young Adult