Winged scapula in patients with myotonic dystrophy type 1

Tadanori Hamano, Tatsuro Mutoh, Mikio Hirayama, Hidemasa Uematsu, Itsuro Higuchi, Hiroshi Koga, Fujio Umehara, Kiyonobu Komai, Masaru Kuriyama

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

We report two patients with myotonic dystrophy type 1 (DM1) showing winged scapula in a single family. Genomic analysis revealed a marked expansion of CTG repeats in the 3' untranslated region; 1100 in patient 1 and 667 in patient 2. Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size. One of the patients showed ragged red fibers in muscles of the biceps brachii. To our knowledge, this is the first report of typical winged scapula in DM1.

Original languageEnglish
Pages (from-to)755-758
Number of pages4
JournalNeuromuscular Disorders
Volume22
Issue number8
DOIs
Publication statusPublished - 08-2012

All Science Journal Classification (ASJC) codes

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

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