Congenital Myopathies: An Update

被引：80

作者：

Nance, Jessica R. ^{[2
]}

Dowling, James J. ^{[3
,4
,5
]}

Gibbs, Elizabeth M. ^{[4
,5
]}

Boennemann, Carsten G. ^{[1
]}

机构：

[1] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Porter Neurosci Res Ctr, Bethesda, MD 20892 USA

[2] Childrens Natl Med Ctr, Dept Neurol, Washington, DC 20010 USA

[3] Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA

[4] Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA

[5] Univ Michigan, Med Ctr, Dept Neurosci, Ann Arbor, MI 48109 USA

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2012年 / 12卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Congenital myopathy; Nemaline rod myopathy; Core myopathy; Central core disease; Multiminicore disease; Centronuclear myopathy; ACTA1; NEB; TMP2; TPM3; TNNT1; Cofilin; 2; KTBDB13; RYR1; SEPN1; MTM1; DNM2; BIN1; CENTRAL-CORE DISEASE; LINKED MYOTUBULAR MYOPATHY; THIN FILAMENT LENGTH; ALPHA-ACTIN GENE; NEMALINE MYOPATHY; SKELETAL-MUSCLE; CENTRONUCLEAR MYOPATHY; DYNAMIN; RYR1; MUTATIONS; AMPHIPHYSIN-2; BIN1;

D O I：

10.1007/s11910-012-0255-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.

引用

页码：165 / 174

页数：10

共 105 条

[1] Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2 [J].

Agrawal, Pankaj B. ;

Greenleaf, Rebecca S. ;

Tomczak, Kinga K. ;

Lehtokari, Vilma-Lotta ;

Wallgren-Pettersson, Carina ;

Wallefeld, William ;

Laing, Nigel G. ;

Darras, Basil T. ;

Maciver, Sutherland K. ;

Dormitzer, Philip R. ;

Beggs, Alan H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (01) :162-167

[2] T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase [J].

Al-Qusairi, Lama ;

Weiss, Norbert ;

Toussaint, Anne ;

Berbey, Celine ;

Messaddeq, Nadia ;

Kretz, Christine ;

Sanoudou, Despina ;

Beggs, Alan H. ;

Allard, Bruno ;

Mandel, Jean-Louis ;

Laporte, Jocelyn ;

Jacquemond, Vincent ;

Buj-Bello, Anna .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (44) :18763-18768

[3] 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

[4] Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis [J].

Arbogast, Sandrine ;

Ferreiro, Ana .

ANTIOXIDANTS & REDOX SIGNALING, 2010, 12 (07) :893-904

[5] Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle [J].

Bang, Marie-Louise ;

Li, Xiaodong ;

Littlefield, Ryan ;

Bremner, Shannon ;

Thor, Andrea ;

Knowlton, Kirk U. ;

Lieber, Richard L. ;

Chen, Ju .

JOURNAL OF CELL BIOLOGY, 2006, 173 (06) :905-916

[6] 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

[7] "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy [J].

Bevilacqua, Jorge A. ;

Bitoun, Marc ;

Biancalana, Valerie ;

Oldfors, Anders ;

Stoltenburg, Gisela ;

Claeys, Kristl G. ;

Lacene, Emmanuelle ;

Brochier, Guy ;

Manere, Linda ;

Laforet, Pascal ;

Eymard, Bruno ;

Guicheney, Pascale ;

Fardeau, Michel ;

Beatriz Romero, Norma .

ACTA NEUROPATHOLOGICA, 2009, 117 (03) :283-291

[8] 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

[9] 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

[10] A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION [J].

Bitoun, M. ;

Bevilacqua, J. A. ;

Eymard, B. ;

Prudhon, B. ;

Fardeau, M. ;

Guicheney, P. ;

Romero, N. B. .

NEUROLOGY, 2009, 72 (01) :93-95

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