期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 10, 期 2, 页码 91-94出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5200743
关键词
congenital muscular dystrophy; laminin; merosin-deficiency; extracellular matrix; skeletal muscle
Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the alpha2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes.
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