SPOAN syndrome: a novel mutation and new ocular findings; a case report
Abstract Background To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). Case presentation Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-01-01
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| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12883-021-02051-9 |