Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
Abstract Background Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cereb...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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