UDP‐glucose dehydrogenase variants cause dystroglycanopathy
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DOI: 10.1002/acn3.70002
Abstract: UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated… read more here.
Keywords: variants cause; udp glucose; dehydrogenase variants; cause dystroglycanopathy ... See more keywords