Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

被引：2

作者：

Voermans, Nicol C. ^{[1
]}

Kleefstra, Tjitske ^{[1
]}

Gabreels-Festen, Anneke A. ^{[1
]}

Faas, Brigitte H. W. ^{[1
]}

Kamsteeg, Erik-Jan ^{[1
]}

Houlden, Henry ^{[1
]}

Laura, Matilde ^{[1
]}

Polke, James M. ^{[1
]}

Pandraud, Amelie ^{[1
]}

van Ruissen, Fred ^{[1
]}

van Engelen, Baziel G. ^{[1
]}

Reilly, Mary M. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2012年 / 17卷 / 02期

基金：

英国医学研究理事会;

关键词：

MARIE-TOOTH-DISEASE; INFANCY;

D O I：

10.1111/j.1529-8027.2012.00402.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：223 / 225

页数：3

共 11 条

[1] Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease
Parman, Y
Planté-Bordeneuve, V
Guiochon-Mantel, A
Eraksoy, M
Said, G
ANNALS OF NEUROLOGY, 1999, 45 (04) : 518 - 522
[2] DEJERINE-SOTTAS DISEASE WITH DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE
IONASESCU, VV
IONASESCU, R
SEARBY, C
NEAHRING, R
NEUROLOGY, 1995, 45 (09) : 1766 - 1767
[3] DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PMP22 GENE
ROA, BB
DYCK, PJ
MARKS, H
CHANCE, P
LUPSKI, JR
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 18 - 18
[4] Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene
Ionasescu, VV
Searby, CC
Ionasescu, R
Chatkupt, S
Patel, N
Koenigsberger, R
MUSCLE & NERVE, 1997, 20 (01) : 97 - 99
[5] Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene
Jen, J
Baloh, RH
Ishiyama, A
Baloh, RW
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 237 (1-2) : 21 - 24
[6] A novel point mutation within intron2 of PMP22 gene in a patient with Dejerine-Sottas disease
Muglia, M
Gabriele, AL
Leone, O
Leonardis, D
Magariello, A
Caracciolo, M
Quattrone, A
EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 161 - 162
[7] DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE
ROA, BB
DYCK, PJ
MARKS, HG
CHANCE, PF
LUPSKI, JR
NATURE GENETICS, 1993, 5 (03) : 269 - 273
[8] A de novo PMP22 point mutation causing Dejerine-Sottas neuropathy in a mother and son with prominent dysarthria
Franconi, Catherine P.
Davis, Mark
Fabian, Vicki
Gubbay, Sasson S.
Laing, Nigel G.
Lamont, Phillipa J.
NEUROMUSCULAR DISORDERS, 2006, 16 : S131 - S131
[9] Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
Al-Thihli, Khalid
Rudkin, Teresa
Carson, Nancy
Poulin, Chantal
Melanocon, Serge
Kaloustian, Vazken M. Der
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (18) : 2412 - 2416
[10] NOVEL PMP22 MUTATION CAUSING DEJERINE-SOTTAS DISEASE, CLINICALLY INDISTINGUISHABLE FROM CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY
Bonsell, Katherine
Galindo, Maureen Kelly
Chacon, Monica
Talwar, Dinesh
Scherer, Katalin
MUSCLE & NERVE, 2016, 54 (03) : 567 - 567

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