Clinical utility gene card for: Centronuclear and myotubular myopathies

被引：19

作者：

Biancalana, Valerie ^{[1
,2
]}

Beggs, Alan H. ^{[3
,4
]}

Das, Soma ^{[5
]}

Jungbluth, Heinz ^{[6
,7
]}

Kress, Wolfram ^{[8
]}

Nishino, Ichizo ^{[9
]}

North, Kathryn ^{[10
]}

Romero, Norma B. ^{[11
]}

Laporte, Jocelyn ^{[2
]}

机构：

[1] CHRU, Fac Med, Lab Diagnost Genet, F-67091 Strasbourg, France

[2] Univ Strasbourg, Coll France, UMR7104, CNRS,U964,INSERM,IGBMC,Dept Translat Med & Neurog, Illkirch Graffenstaden, France

[3] Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Div Genet, Boston, MA USA

[4] Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res,Program Genom, Boston, MA USA

[5] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[6] Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

[7] Kings Coll London, IOP, Clin Neurosci Div, London WC2R 2LS, England

[8] Univ Wurzburg, Inst Human Genet, Wurzburg, Germany

[9] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan

[10] Univ Sydney, Fac Med, Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2006, Australia

[11] UPMC Univ Paris 6 UM76, GHU Pitie Salpetriere, AP HP, CNRS UMR 7215,Inserm UMRS 974,Inst Myol,Unit Neur, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 10期

关键词：

MARIE-TOOTH DISEASE; CONGENITAL MYOPATHIES; MUSCLE INVOLVEMENT; RYR1; MUTATIONS; MTM1; DYNAMIN-2; GENE; PHENOTYPE; PATIENT; FAMILY; XQ28;

D O I：

10.1038/ejhg.2012.91

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：1101 / 1101

页数：5

共 39 条

[1] Prevalence of Congenital Myopathies in a Representative Pediatric United States Population [J].

Amburgey, Kimberly ;

McNamara, Nancy ;

Bennett, Lindsey R. ;

McCormick, M. Eileen ;

Acsadi, Gyula ;

Dowling, James J. .

ANNALS OF NEUROLOGY, 2011, 70 (04) :662-665

[2] Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization [J].

Bevilacqua, J. A. ;

Monnier, N. ;

Bitoun, M. ;

Eymard, B. ;

Ferreiro, A. ;

Monges, S. ;

Lubieniecki, F. ;

Taratuto, A. L. ;

Laquerriere, A. ;

Claeys, K. G. ;

Marty, I. ;

Fardeau, M. ;

Guicheney, P. ;

Lunardi, J. ;

Romero, N. B. .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 (03) :271-284

[3]

Bevilacqua JA, 2008, ACTA NEUROPATHOL, V16, P16

[4] Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype [J].

Biancalana, V ;

Caron, O ;

Gallati, S ;

Baas, F ;

Kress, W ;

Novelli, G ;

D'Apice, MR ;

Lagier-Tourenne, C ;

Buj-Bello, A ;

Romero, NB ;

Mandel, JL .

HUMAN GENETICS, 2003, 112 (02) :135-142

[5] Mutations in dynamin 2 cause dominant centronuclear myopathy [J].

Bitoun, M ;

Maugenre, S ;

Jeannet, PY ;

Lacène, E ;

Ferrer, X ;

Laforêt, P ;

Martin, JJ ;

Laporte, J ;

Lochmüller, H ;

Beggs, AH ;

Fardeau, M ;

Eymard, B ;

Romero, NB ;

Guicheney, P .

NATURE GENETICS, 2005, 37 (11) :1207-1209

[6]

Bitoun M, 2009, HUM MUTAT, V7, P7

[7] A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings [J].

Bitoun, Marc ;

Stojkovic, Tanya ;

Prudhon, Bernard ;

Maurage, Claude-Alain ;

Latour, Philippe ;

Vermersch, Patrick ;

Guicheney, Pascale .

NEUROMUSCULAR DISORDERS, 2008, 18 (04) :334-338

[8] Dynamin 2 mutations cause sporadic centronuclear myropathy with neonatal onset [J].

Bitoun, Marc ;

Bevilacqua, Jorge A. ;

Prudhon, Bernard ;

Maugenre, Svetlana ;

Taratuto, Ana Lia ;

Monges, Soledad ;

Lubieniecki, Fabiana ;

Cances, Claude ;

Uro-Coste, Emmanuelle ;

Mayer, Michele ;

Fardeau, Michel ;

Romero, Norma B. ;

Guicheney, Pascale .

ANNALS OF NEUROLOGY, 2007, 62 (06) :666-670

[9] Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy [J].

Bohm, Johann ;

Biancalana, Valerie ;

DeChene, Elizabeth T. ;

Bitoun, Marc ;

Pierson, Christopher R. ;

Schaefer, Elise ;

Karasoy, Hatice ;

Dempsey, Melissa A. ;

Klein, Fabrice ;

Dondaine, Nicolas ;

Kretz, Christine ;

Haumesser, Nicolas ;

Poirson, Claire ;

Toussaint, Anne ;

Greenleaf, Rebecca S. ;

Barger, Melissa A. ;

Mahoney, Lane J. ;

Kang, Peter B. ;

Zanoteli, Edmar ;

Vissing, John ;

Witting, Nanna ;

Echaniz-Laguna, Andoni ;

Wallgren-Pettersson, Carina ;

Dowling, James ;

Merlini, Luciano ;

Oldfors, Anders ;

Ousager, Lilian Bomme ;

Melki, Judith ;

Krause, Amanda ;

Jern, Christina ;

Oliveira, Acary S. B. ;

Petit, Florence ;

Jacquette, Aurelia ;

Chaussenot, Annabelle ;

Mowat, David ;

Leheup, Bruno ;

Cristofano, Michele ;

Poza Aldea, Juan Jose ;

Michel, Fabrice ;

Furby, Alain ;

Barcena Llona, Jose E. ;

Van Coster, Rudy ;

Bertini, Enrico ;

Urtizberea, Jon Andoni ;

Drouin-Garraud, Valerie ;

Beroud, Christophe ;

Prudhon, Bernard ;

Bedford, Melanie ;

Mathews, Katherine ;

Erby, Lori A. H. .

HUMAN MUTATION, 2012, 33 (06) :949-959

[10] Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation [J].

Bohm, Johann ;

Yis, Uluc ;

Ortac, Ragip ;

Cakmakci, Handan ;

Kurul, Semra Hiz ;

Dirik, Eray ;

Laporte, Jocelyn .

ORPHANET JOURNAL OF RARE DISEASES, 2010, 5

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