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    A new family with spastic paraplegia type 51 and novel mutations in AP4E1

    Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 re...

    Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk… in BMC Medical Genomics (2021)

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