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

doi:10.1016/j.nmd.2012.04.010

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 journal › Article › peer-review

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 language	English
Pages (from-to)	755-758
Number of pages	4
Journal	Neuromuscular Disorders
Volume	22
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2012.04.010
Publication status	Published - 08-2012
Externally published	Yes

All Science Journal Classification (ASJC) codes

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

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10.1016/j.nmd.2012.04.010

Cite this

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title = "Winged scapula in patients with myotonic dystrophy type 1",

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.",

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

year = "2012",

month = aug,

doi = "10.1016/j.nmd.2012.04.010",

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journal = "Neuromuscular Disorders",

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T1 - Winged scapula in patients with myotonic dystrophy type 1

AU - Hamano, Tadanori

AU - Mutoh, Tatsuro

AU - Hirayama, Mikio

AU - Uematsu, Hidemasa

AU - Higuchi, Itsuro

AU - Koga, Hiroshi

AU - Umehara, Fujio

AU - Komai, Kiyonobu

AU - Kuriyama, Masaru

PY - 2012/8

Y1 - 2012/8

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84863870221

UR - https://www.scopus.com/pages/publications/84863870221#tab=citedBy

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DO - 10.1016/j.nmd.2012.04.010

M3 - Article

C2 - 22683376

AN - SCOPUS:84863870221

SN - 0960-8966

VL - 22

SP - 755

EP - 758

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -

Winged scapula in patients with myotonic dystrophy type 1

Abstract

All Science Journal Classification (ASJC) codes

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