A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report
Abstract Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not been described in China to date. The...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2018-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |