Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

Amy R Frost, Sabrina V Böhm, Raj N Sewduth, Dragana Josifova, Caroline Mackie Ogilvie, Louise Izatt, Roland G Roberts

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology