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Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of se...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
The American Society of Human Genetics
2001
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1235559/ https://ncbi.nlm.nih.gov/pubmed/11592034 |
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