期刊
SEMINARS IN PEDIATRIC NEUROLOGY
卷 29, 期 -, 页码 12-22出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2019.01.005
关键词
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资金
- Sigrid Juselius Foundation
- Association Francaise contre les Myopathies [18761]
- Finska Lakaresallskapet
- Muscular Dystrophy UK [16NEM-PG36-0094]
- Medicinska understodsforeningen Liv och Halsa
- Muscular Dystrophy UK [16NEM-PG36-0094] Funding Source: researchfish
The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to increase due to the accelerated use of next-generation sequencing methods. There is substantial overlap between the causative genes and the clinical and histopathologic features of the congenital myopathies. The mode of inheritance can be auto-somal recessive, autosomal dominant or X-linked. Both dominant and recessive mutations in the same gene can cause a similar disease phenotype, and the same clinical phenotype can also be caused by mutations in different genes. Clear genotype-phenotype correlations are few and far between. (C) 2019 Elsevier Inc. All rights reserved.
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