期刊
SEMINARS IN PEDIATRIC NEUROLOGY
卷 29, 期 -, 页码 55-70出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2019.01.007
关键词
-
资金
- NHS England Highly Specialized Services
Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally classified into subcategories based on characteristic histopathologic findings in muscle biopsies. This enduring concept of disease definition and classification based on the clinicopathologic phenotype was pioneered in the premolecular era. Advances in molecular genetics have brought into focus the increased blurring of the original seemingly watertight categories through broadening of the clinical phenotypes in existing genes, and continuous identification of novel genetic backgrounds. This review summarizes the histopathologic landscape of the 4 classical subtypes of CM-nemaline myopathies, core myopathies, centronuclear myopathies, and congenital fiber type disproportion and some of the emerging and novel genetic diseases with a CM presentation. (C) 2019 Elsevier Inc. All rights reserved.
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