期刊
NEUROMUSCULAR DISORDERS
卷 21, 期 8, 页码 563-568出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.04.010
关键词
Inflammatory myopathy; Laminopathy; Emery-Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Congenital muscular dystrophy; LMNA; Infantile; Pathology; Steroid therapy; Muscle image
资金
- Japan Society for the Promotion of Science [21591104]
- Research on Psychiatric and Neurological Diseases and Mental Health of Health Labour Sciences
- Ministry of Health, Labour, and Welfare [20B-12, 20B-13]
- Japanese Health Sciences Foundation
- National Institute of Biomedical Innovation (NIBIO)
- Grants-in-Aid for Scientific Research [21591312, 21591104] Funding Source: KAKEN
Mutations in LMNA cause wide variety of disorders including Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and congenital muscular dystrophy. We recently found a LMNA mutation in a patient who was previously diagnosed as infantile onset inflammatory myopathy. In this study, we screened for LMNA mutations in 20 patients suspected to have inflammatory myopathy with onset at 2 years or younger. The diagnosis of inflammatory myopathy was based on muscle pathology with presence of perivascular cuffing and/or endomysial/perimysial lymphocyte infiltration. We identified heterozygous LMNA mutations in 11 patients (55%), who eventually developed joint contractures and/or cardiac involvement after the infantile period. Our findings suggest that LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy, and that this may help avoid life-threatening events associated with laminopathy. (C) 2011 Elsevier B.V. All rights reserved.
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