Article
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
European journal of medical genetics - 1 Jan 2000
Yanagisawa Akiko, Bouchet Céline, Quijano-Roy Susana, Vuillaumier-Barrot Sandrine, Clarke Nigel, Odent Sylvie, Rodriguez Diana, Romero Norma B, Osawa Makiko, Endo Tamao, Taratuto Ana Lia, Seta Nathalie, Guicheney Pascale
Abstract excerpt
BACKGROUND: Alpha-dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance characterized by abnormal glycosylation of alpha-dystroglycan. Although six genetic causes have been identified (FKTN, POMGNT1, POMT1, POMT2, FKRP, and LARGE) many alpha-dystroglycanopathy patients remain without a genetic diagnosis after standard exon sequencing. To date POMT2...
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