Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein

被引：4

作者：

Boland-Freitas, Robert ^{[1
]}

Graham, John ^{[2
]}

Davis, Mark ^{[3
]}

Geevasinga, Nimeshan ^{[4
,5
]}

Vucic, Steve ^{[4
,5
]}

Ng, Karl ^{[1
]}

机构：

[1] Royal North Shore Hosp, Dept Neurol & Neurophysiol, St Leonards, NSW, Australia

[2] Brisbane Waters Private Hosp, Woy Woy, NSW, Australia

[3] QE II Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Neurogenet Unit, Nedlands, WA, Australia

[4] Westmead Hosp, Dept Neurol, Westmead, NSW, Australia

[5] Westmead Hosp, Dept Neurophysiol, Westmead, NSW, Australia

来源：

MUSCLE & NERVE | 2016年 / 54卷 / 01期

关键词：

INCLUSION-BODY MYOPATHY; FRONTOTEMPORAL DEMENTIA; PAGET-DISEASE; BONE;

D O I：

10.1002/mus.25073

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：165 / 166

页数：2

共 12 条

[1] Motor neuron involvement in multisystem proteinopathy: Implications for ALS [J].

Benatar, Michael ;

Wuu, Joanne ;

Fernandez, Catalina ;

Weihl, Conrad C. ;

Katzen, Heather ;

Steele, Julie ;

Oskarsson, Bjorn ;

Taylor, J. Paul .

NEUROLOGY, 2013, 80 (20) :1874-1880

[2] Hereditary spastic paraplegia caused by a mutation in the VCP gene [J].

de Bot, Susanne T. ;

Schelhaas, Helenius J. ;

Kamsteeg, Erik-Jan ;

van de Warrenburg, Bart P. C. .

BRAIN, 2012, 135

[3] NOVEL p.Ile151Val MUTATION IN VCP IN A PATIENT OF AFRICAN AMERICAN DESCENT WITH SPORADIC ALS [J].

DeJesus-Hernandez, M. ;

Desaro, P. ;

Johnston, A. ;

Ross, O. A. ;

Wszolek, Z. K. ;

Ertekin-Taner, N. ;

Graff-Radford, N. R. ;

Rademakers, R. ;

Boylan, K. .

NEUROLOGY, 2011, 77 (11) :1102-1103

[4] A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease [J].

Gonzalez, Michael A. ;

Feely, Shawna M. ;

Speziani, Fiorella ;

Strickland, Alleene V. ;

Danzi, Matt ;

Bacon, Chelsea ;

Lee, Youjin ;

Chou, Tsui-Fen ;

Blanton, Susan H. ;

Weihl, Conrad C. ;

Zuchner, Stephan ;

Shy, Michael E. .

BRAIN, 2014, 137 :2897-2902

[5] Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS (vol 68, pg 857, 2010) [J].

Johnson, Janel O. ;

Mandrioli, Jessica ;

Benatar, Michael ;

Abramzon, Yevgeniya ;

Van Deerlin, Vivianna M. ;

Trojanowski, John Q. ;

Gibbs, J. Raphael ;

Brunetti, Maura ;

Gronka, Susan ;

Wuu, Joanne ;

Ding, Jinhui ;

McCluskey, Leo ;

Martinez-Lage, Maria ;

Falcone, Dana ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Chong, Sean ;

Schymick, Jennifer C. ;

Rothstein, Jeffrey ;

Landi, Francesco ;

Wang, Yong-Dong ;

Calvo, Andrea ;

Mora, Gabriele ;

Sabatelli, Mario ;

Monsurro, Maria Rosaria ;

Battistini, Stefania ;

Salvi, Fabrizio ;

Spataro, Rossella ;

Sola, Patrizia ;

Borghero, Giuseppe ;

Galassi, Giuliana ;

Scholz, Sonja W. ;

Taylor, J. Paul ;

Restagno, Gabriella ;

Chio, Adriano ;

Traynor, Bryan J. .

NEURON, 2011, 69 (02) :397-397

[6] AXONAL HYPERPOLARIZATION IN INCLUSION-BODY MYOPATHY, PAGET DISEASE OF THE BONE, AND FRONTOTEMPORAL DEMENTIA (IBMPFD) [J].

Kumar, Kishore R. ;

Liang, Christina ;

Needham, Merilee ;

Burke, David ;

Sue, Carolyn M. ;

Ng, Karl .

MUSCLE & NERVE, 2011, 44 (02) :191-196

[7] Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: Novel clinical and genetic findings [J].

Kumar, Kishore R. ;

Needham, Merrilee ;

Mina, Kym ;

Davis, Mark ;

Brewer, Janice ;

Staples, Christopher ;

Ng, Karl ;

Sue, Carolyn M. ;

Mastaglia, Frank L. .

NEUROMUSCULAR DISORDERS, 2010, 20 (05) :330-334

[8] Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family [J].

Palmio, Johanna ;

Sandell, Satu ;

Suominen, Tiina ;

Penttila, Sini ;

Raheem, Olayinka ;

Hackman, Peter ;

Huovinen, Sanna ;

Haapasalo, Hannu ;

Udd, Bjarne .

NEUROMUSCULAR DISORDERS, 2011, 21 (08) :551-555

[9] Characterization of the Asian myopathy patients with VCP mutations [J].

Shi, Z. ;

Hayashi, Y. K. ;

Mitsuhashi, S. ;

Goto, K. ;

Kaneda, D. ;

Choi, Y. -C. ;

Toyoda, C. ;

Hieda, S. ;

Kamiyama, T. ;

Sato, H. ;

Wada, M. ;

Noguchi, S. ;

Nonaka, I. ;

Nishino, I. .

EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 (03) :501-509

[10] Phenotypic variability in three families with valosin-containing protein mutation [J].

Spina, S. ;

Van Laar, A. D. ;

Murrell, J. R. ;

Hamilton, R. L. ;

Kofler, J. K. ;

Epperson, F. ;

Farlow, M. R. ;

Lopez, O. L. ;

Quinlan, J. ;

DeKosky, S. T. ;

Ghetti, B. .

EUROPEAN JOURNAL OF NEUROLOGY, 2013, 20 (02) :251-+

← 1 2 →