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- W2317360828 abstract "Aims: Congenital muscular dystrophies with defective O-glycosylation of α-dystroglycan (dystroglycanopathies) are a heterogeneous group of autosomal-recessive diseases with a broad clinical spectrum ranging from Walker-Warburg syndrome (WWS) to limb girdle muscular dystrophy (LGMD). The aim of this study is to characterize genotype and phenotype of patients with confirmed dystroglycanopathy diagnosed in our genetic laboratory in the past 9 years." @default.
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- W2317360828 date "2013-03-26" @default.
- W2317360828 modified "2023-09-25" @default.
- W2317360828 title "Genotype-phenotype correlation in congenital muscular dystrophies with defective O-glycosylation of #CHR:alpha_LOWER#-dystroglycan" @default.
- W2317360828 doi "https://doi.org/10.1055/s-0033-1337745" @default.
- W2317360828 hasPublicationYear "2013" @default.
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