Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Akinori UruhaYukiko K HayashiYasushi OyaMadoka Mori-YoshimuraMasahiro KanaiMiho MurataMayumi KawamuraKatsuhisa OgataTsuyoshi MatsumuraShigeaki SuzukiYukako TakahashiTakayuki KondoTakeshi KawarabayashiYuko IshiiNorito KokubunSatoshi YokoiRei YasudaJun-ichi KiraSatomi MitsuhashiSatoru NoguchiIkuya NonakaIchizo Nishino

Published in: Journal of neurology, neurosurgery, and psychiatry (2014)

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.

Keyphrases

respiratory failure
extracorporeal membrane oxygenation
mechanical ventilation
skeletal muscle
late onset
single cell
acute respiratory distress syndrome
muscular dystrophy
duchenne muscular dystrophy