Research view
| Title: | New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families |
| Author: | Louhichi N, Triki C, Quijano-Roy S, Richard P, Makri S, M?ziou M, Estournet B, Mrad S, Romero NB, Ayadi H, Guicheney P, Fakhfakh F. |
| Abstract: |
The congenital muscular dystrophies (CMD) constitute a clinically and genetically
heterogeneous group of autosomal recessive myopathies. Patients show congenital
hypotonia, muscle weakness, and dystrophic changes on muscle biopsy. Mutations in
four gen
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| Journal: | Neurogenetics. 2004 Feb;5(1):27-34. Epub 2003 Dec 2. |