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
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
收藏
页码:165 / 174
页数:10
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