hereditary spastic paraplegia 76

Summary
Synonym
  • SPG76
  • autosomal recessive spastic paraplegia 76
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Disease Ontology
DOID:0110821
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
823 CAPN1 calpain 1
825 CAPN3 calpain 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024