Congenital myopathies - a comprehensive update of recent advancements

被引：24
|
作者：
Sharma, M. C. [1 ]
Jain, D. [2 ]
Sarkar, C. [1 ]
Goebel, H. H. [3 ]
机构：
[1] All India Inst Med Sci, Dept Pathol, New Delhi 110029, India
[2] Maulana Azad Med Coll, Dept Pathol, New Delhi, India
[3] Johannes Gutenberg Univ Mainz, Med Ctr, Dept Neuropathol, Mainz, Germany
来源：
ACTA NEUROLOGICA SCANDINAVICA | 2009年 / 119卷 / 05期
关键词：
congenital myopathy; clinicopathological; enzyme histochemistry; muscle biopsy; ultra structure; CENTRAL-CORE DISEASE; RYANODINE RECEPTOR GENE; DESMIN-RELATED MYOPATHY; LINKED MYOTUBULAR MYOPATHY; MULTI-MINICORE DISEASE; MALIGNANT HYPERTHERMIA FAMILIES; FIBER-TYPE DISPROPORTION; BODY-LIKE INCLUSIONS; NEMALINE MYOPATHY; CENTRONUCLEAR MYOPATHY;
D O I：
10.1111/j.1600-0404.2008.01126.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it's various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up-to-date analysis of congenital myopathies including clinical and pathologic aspects.
引用
收藏
页码：281 / 292
页数：12
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