Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54
BackgroundSpastic paraplegia type 54 (SPG54) is a rare inherited autosomal recessive disorder, and a complex hereditary spastic paraplegia (HSP) caused by mutations in the phospholipase DDHD2 gene. SPG54 is characterized by early onset of spastic paraplegia, intellectual disability and dysplasia of...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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