遗传性运动感觉神经病1A型重复：完善最小成人表型 - Suppr

CMT1A duplication: refining the minimal adult phenotype.

作者信息

Berciano José, Gallardo Elena, García Antonio, Ramón César, Mateo Ignacio, Infante Jon, Rodríguez-Rodríguez Eloy, Combarros Onofre

出版信息

J Peripher Nerv Syst. 2008 Dec;13(4):310-2. doi: 10.1111/j.1529-8027.2008.00199.x.

DOI:10.1111/j.1529-8027.2008.00199.x

PMID:19192073

Abstract

摘要

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CMT1A duplication: refining the minimal adult phenotype.

J Peripher Nerv Syst. 2008 Dec;13(4):310-2. doi: 10.1111/j.1529-8027.2008.00199.x.

Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A.

Brain. 2006 Jul;129(Pt 7):E50; author reply E51. doi: 10.1093/brain/awl116.

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.

Brain. 2006 Feb;129(Pt 2):426-37. doi: 10.1093/brain/awh693. Epub 2005 Nov 29.

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

J Peripher Nerv Syst. 2008 Dec;13(4):299-304. doi: 10.1111/j.1529-8027.2008.00196.x.

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

Neuromuscul Disord. 2008 Aug;18(8):610-8. doi: 10.1016/j.nmd.2008.05.012. Epub 2008 Jul 7.

Treatment of the cavus foot. Deformity in the pediatric patient with Charcot-Marie-Tooth.

Foot Ankle Clin. 2000 Jun;5(2):305-15.

Evolution of foot and ankle manifestations in children with CMT1A.

Muscle Nerve. 2009 Feb;39(2):158-66. doi: 10.1002/mus.21140.

Charcot-Marie-Tooth disease and the cavovarus foot.

Foot Ankle Clin. 2008 Jun;13(2):259-74, vi-vii. doi: 10.1016/j.fcl.2008.02.004.

Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease.

Gait Posture. 2008 Nov;28(4):545-51. doi: 10.1016/j.gaitpost.2008.03.011. Epub 2008 May 23.

Assessment and management of pes cavus in Charcot-Marie-tooth disease.

Clin Orthop Relat Res. 1989 Sep(246):273-81.

引用本文的文献

New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

J Neurol. 2011 Sep;258(9):1594-602. doi: 10.1007/s00415-011-6094-x. Epub 2011 May 18.

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19.

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

J Neurol. 2009 Dec;256(12):2061-71. doi: 10.1007/s00415-009-5251-y.

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CMT1A duplication: refining the minimal adult phenotype.

作者信息

Berciano José, Gallardo Elena, García Antonio, Ramón César, Mateo Ignacio, Infante Jon, Rodríguez-Rodríguez Eloy, Combarros Onofre

出版信息

J Peripher Nerv Syst. 2008 Dec;13(4):310-2. doi: 10.1111/j.1529-8027.2008.00199.x.

DOI:10.1111/j.1529-8027.2008.00199.x

PMID:19192073

Abstract

摘要

相似文献

CMT1A duplication: refining the minimal adult phenotype.

J Peripher Nerv Syst. 2008 Dec;13(4):310-2. doi: 10.1111/j.1529-8027.2008.00199.x.

Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A.

Brain. 2006 Jul;129(Pt 7):E50; author reply E51. doi: 10.1093/brain/awl116.

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.

Brain. 2006 Feb;129(Pt 2):426-37. doi: 10.1093/brain/awh693. Epub 2005 Nov 29.

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

J Peripher Nerv Syst. 2008 Dec;13(4):299-304. doi: 10.1111/j.1529-8027.2008.00196.x.

Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A.

Neuromuscul Disord. 2008 Aug;18(8):610-8. doi: 10.1016/j.nmd.2008.05.012. Epub 2008 Jul 7.

Treatment of the cavus foot. Deformity in the pediatric patient with Charcot-Marie-Tooth.

Foot Ankle Clin. 2000 Jun;5(2):305-15.

Evolution of foot and ankle manifestations in children with CMT1A.

Muscle Nerve. 2009 Feb;39(2):158-66. doi: 10.1002/mus.21140.

Charcot-Marie-Tooth disease and the cavovarus foot.

Foot Ankle Clin. 2008 Jun;13(2):259-74, vi-vii. doi: 10.1016/j.fcl.2008.02.004.

Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease.

Gait Posture. 2008 Nov;28(4):545-51. doi: 10.1016/j.gaitpost.2008.03.011. Epub 2008 May 23.

Assessment and management of pes cavus in Charcot-Marie-tooth disease.

Clin Orthop Relat Res. 1989 Sep(246):273-81.

引用本文的文献

New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.

J Neurol. 2011 Sep;258(9):1594-602. doi: 10.1007/s00415-011-6094-x. Epub 2011 May 18.

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19.

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

J Neurol. 2009 Dec;256(12):2061-71. doi: 10.1007/s00415-009-5251-y.

CMT1A duplication: refining the minimal adult phenotype.

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出版信息

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CMT1A duplication: refining the minimal adult phenotype.

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