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선천성 혈소판감소증을 동반한 GNE 근육병증

Other Titles
 GNE Myopathy with Congenital Thrombocytopenia 
Authors
 허준녕  ;  김세훈  ;  신하영  ;  이정환  ;  최영철 
Citation
 Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지), Vol.10(1) : 5-7, 2018 
Journal Title
 Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) 
ISSN
 2092-5077 
Issue Date
2018
Keywords
Diatal myopathy ; Nonaka type ; Thrombocytopenia
Abstract
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case of GNE myopathy with thrombocytopenia, having c.1664C>T (p.A555V) and c.1807G>C(p.V603L) mutations. These two are already well-known mutations, found commonly in multiple reports. We reviewed other cases of thrombocytopenia in GNE myopathy and concluded that thrombocytopenia may not be restricted to any specific mutation in the GNE gene or any one of two enzymes. Even so, a GNE gene defect can be the causative mutation for these cases of congenital thrombocytopenia, considering that hyposialylation of platelets may cause shortening of its lifespan, and the incidence of thrombocytopenia in GNE myopathy is much higher than in the normal population.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이정환(Lee, Jung Hwan)
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
허준녕(Heo, Joon Nyung)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/163222
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