Article
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology - 18 Sept 2007
Yanagisawa A, Bouchet C, Van den Bergh P Y K, Cuisset J-M, Viollet L, Leturcq F, Romero N B, Quijano-Roy S, Fardeau M, Seta N, Guicheney P
Abstract excerpt
BACKGROUND: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance, often associated with CNS and ocular involvement. They are characterized by the abnormal glycosylation of alpha-dystroglycan, and caused by mutations in at least six genes encoding enzymes: FKTN, POMGNT1, POMT1, POMT2, FKRP, and LARGE. POMT2 mutations have recently been identified in...
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