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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 |
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| Authors: | Amy R Frost Sabrina V B?hm Raj N Sewduth Dragana Josifova Caroline Mackie Ogilvie Louise Izatt Roland G Roberts |
| Affiliation: | 1.Department of Clinical Genetics, Guy''s and St Thomas NHS Foundation Trust, London, UK;2.King''s College London, Department of Medical and Molecular Genetics, London, UK;3.Department of Cytogenetics, Guy''s and St Thomas NHS Foundation Trust, London, UK |
| Abstract: | |
| Keywords: | dystroglycan muscular dystrophy learning difficulties white matter oral-motor dyspraxia |