Article
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Genome medicine - 22 Dec 2017
Maroofian Reza, Riemersma Moniek, Jae Lucas T, Zhianabed Narges, Willemsen Marjolein H, Wissink-Lindhout Willemijn M, Willemsen Michèl A, de Brouwer Arjan P M, Mehrjardi Mohammad Yahya Vahidi, Ashrafi Mahmoud Reza, Kusters Benno, Kleefstra Tjitske, Jamshidi Yalda, Nasseri Mojila, Pfundt Rolph, Brummelkamp Thijn R, Abbaszadegan Mohammad Reza, Lefeber Dirk J, van Bokhoven Hans
Abstract excerpt
BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients....
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