| Literature DB >> 22683376 |
Tadanori Hamano1, Tatsuro Mutoh, Mikio Hirayama, Hidemasa Uematsu, Itsuro Higuchi, Hiroshi Koga, Fujio Umehara, Kiyonobu Komai, Masaru Kuriyama.
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.Entities:
Mesh：
Year: 2012 PMID： 22683376 DOI： 10.1016/j.nmd.2012.04.010
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296