Kyphoscoliosis and easy fatigability in a 14-year-old boy

被引：0

作者：

Tanboon, Jantima ^{[1
]}

Hayashi, Yukiko K. ^{[2
,3
,4
]}

Nishino, Ichizo ^{[3
,4
]}

Sangruchi, Tumtip ^{[1
]}

机构：

[1] Mahidol Univ, Siriraj Hosp, Dept Pathol, Fac Med, Bangkok 10700, Thailand

[2] Tokyo Med Univ, Dept Neurophysiol, Tokyo 1608402, Japan

[3] Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan

[4] Natl Ctr Neurol & Psychiat, Dept Clin Dev, Translat Med Ctr, Tokyo, Japan

来源：

NEUROPATHOLOGY | 2015年 / 35卷 / 01期

关键词：

TROPOMYOSIN GENE TPM2; CAP DISEASE; NEMALINE RODS; MYOPATHY; MUTATION; FAMILY;

D O I：

10.1111/neup.12147

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：91 / 93

页数：3

共 9 条

[1] Cap disease due to mutation of the beta-tropomyosin gene (TPM2) [J].

Clarke, Nigel F. ;

Domazetovska, Ana ;

Waddell, Leigh ;

Kornberg, Andrew ;

McLean, Catriona ;

North, Kathryn N. .

NEUROMUSCULAR DISORDERS, 2009, 19 (05) :348-351

[2] 'Cap myopathy':: Case report of a family [J].

Cuisset, JM ;

Maurage, CA ;

Pellissier, J ;

Barois, A ;

Urtizberea, JA ;

Laing, N ;

Tajsharghi, H ;

Vallée, L .

NEUROMUSCULAR DISORDERS, 2006, 16 (04) :277-281

[3] Cap disease - a failure in the correct muscle fibre formation [J].

Fidzianska, A .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 201 (1-2) :27-31

[4] Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2 [J].

Lehtokari, Vilma-Lotta ;

Ceuterick-de Groote, Chantal ;

de Jonghe, Peter ;

Marttila, Minttu ;

Laing, Nigel G. ;

Pelin, Katarina ;

Wallgren-Pettersson, Carina .

NEUROMUSCULAR DISORDERS, 2007, 17 (06) :433-442

[5] Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies [J].

Marttila, Minttu ;

Lehtokari, Vilma-Lotta ;

Marston, Steven ;

Nyman, Tuula A. ;

Barnerias, Christine ;

Beggs, Alan H. ;

Bertini, Enrico ;

Ceyhan-Birsoy, Oezge ;

Cintas, Pascal ;

Gerard, Marion ;

Gilbert-Dussardier, Brigitte ;

Hogue, Jacob S. ;

Longman, Cheryl ;

Eymard, Bruno ;

Frydman, Moshe ;

Kang, Peter B. ;

Klinge, Lars ;

Kolski, Hanna ;

Lochmueller, Hans ;

Magy, Laurent ;

Manel, Veronique ;

Mayer, Michele ;

Mercuri, Eugenio ;

North, Kathryn N. ;

Peudenier-Robert, Sylviane ;

Pihko, Helena ;

Probst, Frank J. ;

Reisin, Ricardo ;

Stewart, Willie ;

Taratuto, Ana Lia ;

de Visser, Marianne ;

Wilichowski, Ekkehard ;

Winer, John ;

Nowak, Kristen ;

Laing, Nigel G. ;

Winder, Tom L. ;

Monnier, Nicole ;

Clarke, Nigel F. ;

Pelin, Katarina ;

Groenholm, Mikaela ;

Wallgren-Pettersson, Carina .

HUMAN MUTATION, 2014, 35 (07) :779-790

[6] New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations [J].

Ohlsson, M. ;

Quijano-Roy, S. ;

Darin, N. ;

Brochier, G. ;

Lacene, E. ;

Avila-Smirnow, D. ;

Fardeau, M. ;

Oldfors, A. ;

Tajsharghi, H. .

NEUROLOGY, 2008, 71 (23) :1896-1901

[7] Novel TPM3 mutation in a family with cap myopathy and review of the literature [J].

Schreckenbach, T. ;

Schroeder, J. M. ;

Voit, T. ;

Abicht, A. ;

Neuen-Jacob, E. ;

Roos, A. ;

Bulst, S. ;

Kuhl, C. ;

Schulz, J. B. ;

Weis, J. ;

Claeys, K. G. .

NEUROMUSCULAR DISORDERS, 2014, 24 (02) :117-124

[8] Congenital myopathy with nemaline rods and cap structures caused by a mutation in the β-tropomyosin gene (TPM2) [J].

Tajsharghi, Homa ;

Ohlsson, Monica ;

Lindberg, Christopher ;

Oldfors, Anders .

ARCHIVES OF NEUROLOGY, 2007, 64 (09) :1334-1338

[9] Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures [J].

Tasca, Giorgio ;

Fattori, Fabiana ;

Ricci, Enzo ;

Monforte, Mauro ;

Rizzo, Valentina ;

Mercuri, Eugenio ;

Bertini, Enrico ;

Silvestri, Gabriella .

ACTA NEUROPATHOLOGICA, 2013, 125 (01) :169-171

← 1 →