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Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Authors
  • Uruha, Akinori
  • Hayashi, Yukiko K
  • Oya, Yasushi
  • Mori-Yoshimura, Madoka
  • Kanai, Masahiro
  • Murata, Miho
  • Kawamura, Mayumi
  • Ogata, Katsuhisa
  • Matsumura, Tsuyoshi
  • Suzuki, Shigeaki
  • Takahashi, Yukako
  • Kondo, Takayuki
  • Kawarabayashi, Takeshi
  • Ishii, Yuko
  • Kokubun, Norito
  • Yokoi, Satoshi
  • Yasuda, Rei
  • Kira, Jun-ichi
  • Mitsuhashi, Satomi
  • Noguchi, Satoru
  • And 2 more
Type
Published Article
Journal
Journal of Neurology Neurosurgery & Psychiatry
Publisher
BMJ
Publication Date
May 01, 2015
Volume
86
Issue
5
Pages
483–489
Identifiers
DOI: 10.1136/jnnp-2014-309009
PMID: 25253871
Source
Medline
Keywords
License
Unknown

Abstract

The necklace CB is a useful diagnostic marker for HMERF. When muscle pathology shows necklace CBs, sequencing the FN3 119 domain of A-band in TTN should be considered.

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