Title: | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation |
Journal : | Neurology, 69, 12 |
Authors: | Yanagisawa A, Author ; Bouchet C ; Van Den Bergh PYK ; Cuisset JM ; Viollet L ; Leturcq F ; Romero NB ; Quijano Roy S ; Fardeau M ; Seta N ; Guicheney P ; Van Den Bergh PYK |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p 1254 |
Languages: | English |
Keywords : | brain atrophy ; cardiac features ; case studies ; cerebellum ; creatine kinase ; eyes ; genetic mutations ; intellectual developmental disorder ; lordosis ; microcephaly ; muscle weakness ; muscle-eye-brain disease related to POMGNT1 ; POMT2 gene ; skeletal muscle ; Walker-Warburg syndrome |
Pubmed / DOI : | Pubmed : 17634419 / Pubmed : 10.1212/01.wnl.0000268489.60809.c4 |