期刊
SEMINARS IN PEDIATRIC NEUROLOGY
卷 18, 期 4, 页码 257-263出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2011.10.007
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资金
- German Research Association (DFG) [FOR1228]
- Ludwig-Maximilians-University of Munich
- German Ministry of Education and Research (BMBF, Bonn, Germany)
During the past 2 years, considerable progress in the field of four and a half LIM domain protein 1 (FHL1)-related myopathies has led to the identification of a growing number of FHL1 mutations. This genetic progress has uncovered crucial pathophysiological concepts, thus redefining clinical phenotypes. Important new characterizations include 4 distinct human myopathies: reducing body myopathy, X-linked myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, and scapuloperoneal myopathy. Additionally, FHL1 mutations have been discovered in rigid spine syndrome and in a single family with contractures, rigid spine, and cardiomyopathy. In this review, we focus on the clinical phenotypes, which we correlate with the novel genetic and histological findings encountered within FHL1-related myopathies. This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given FHL1 mutation. Semin Pediatr Neurol 18:257-263 (C) 2011 Elsevier Inc. All rights reserved.
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