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논문KCI 등재

비전형적인 신경전도검사 소견을 보인 유전성압박마비편향신경병증 가족 1예

A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features

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참고문헌

주제분류신경과학

초록

Abstract

We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study was compatible with HNPP. Molecular analysis confirmed the deletion of chromosome 17p11.2 in both patients. Our case suggests that HNPP has more diverse electrophysiological features than reported so far

참고문헌 (10)

  1. "Overview of hereditary neuropathy with liability to pressure palsy", 883, pp.14~21 (1999)
  2. "Hereditary neuropathies", 16, pp.613~622 (2003)
  3. "Clinical, electrophysiological, and molecular correlation in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11", maiso(be t), pp.2 2018~2023 (1995)
  4. "Hereditary neuropathy with liability to pressure palsy:the electrophysiology fits the name", 58, pp.1769~1773 (2002)
  5. "Spectrum of clinical and electrophysiological features in HNPP patients with the 17p11.2 deletion", 52, pp.1440~1446 (1999)
  6. "Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies", 54, pp.40~44 (2000)
  7. "Hereditary neuropathy with liability to pressure palsies.Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation", 121, pp.1451~1458 (1998)
  8. "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies", 13, pp.11~28 (1999)
  9. "The 1.4-Mb CMT1A duplication", HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes, 2001, pp.11, 1018~1033
  10. "Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication", 18, pp.628~635 (1995)

관련 논문AI추천

ereditary Neuropathy with Liability to Pressure Palsies와 Charcot-Marie-Tooth1A 환자군의 신경전도검사 소견의 비교김상운, 김승민, 김지현, 이종윤, 정연경, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2004 · 제22권 제4호유전학적으로 진단된 Charcot-Marie-Tooth 1A 환자의 전기생리학적 특성김승민, 서범천, 이미희, 조정희, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2006 · 제24권 제1호염색체 17p11.2유전자 결손을 동반한 유전성 압막마비 편향 신경병증의 임상적, 전기생리학적 특성김만호, 김성훈, 성정준, 이광우, 홍윤호대한임상신경생리학회 · Annals of Clinical Neurophysiology2002 · 제4권 제2호한국인 Charcot-Marie-Tooth 환자에서 Myelin Protein Zero (MPZ) 유전자 돌연변이 분석-임상 및 전기생리학적 특성-김승민, 박기덕, 이광수, 정기화, 조현지, 최병옥, 선우일남대한신경과학회 · 대한신경과학회지2005 · 제23권 제2호Atypical Presentation of Hereditary Neuropathy with Liability to Pressure Palsy: A Case Report신희동, 이승화, 정희섭대한근전도전기진단의학회 · 대한근전도 전기진단의학회지2021 · 제23권 제1호다발성 단신경병증의 임상적, 전기생리학적 특성박경석, 박성호, 이광우, 정재면대한임상신경생리학회 · Annals of Clinical Neurophysiology2002 · 제4권 제1호

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