Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5503094 | Journal of the Neurological Sciences | 2017 | 11 Pages |
Abstract
- This case of adult-onset nemaline myopathy showed hypercapnic respiratory failure.
- Muscle weakness progressed very slowly in our patient.
- Novel compound heterozygous mutations identified in the NEB gene.
Keywords
pCO2NADH-trNEBACTA1CFL2PO2ALTTPM2AS-PCRMGUSTPM3TNNT1DNAH&EHCO3−ASTAspartate aminotransferaseAlanine aminotransferasedeoxyribonucleic acidoxygen saturationOxygencomputed tomographySO2Carbon dioxidePCR-RFLPOxygen partial pressureCarbon dioxide partial pressureNebulinCompound heterozygoteHematoxylin and Eosinpolymerase chain reaction-restriction fragment length polymorphismCO2monoclonal gammopathy of undetermined significance
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Authors
Keiichiro Tsunoda, Toru Yamashita, Emi Motokura, Yoshiaki Takahashi, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Atsuko Nishikawa, Ichizo Nishino, Koji Abe,