Autosomal recessive spastic paraplegia type 44 is a neurological disorder caused by mutations of the GJC2 gene.
1. |
Orthmann-Murphy JL et al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. |
2. |
OMIM.ORG article Omim 613206 |
3. |
Orphanet article Orphanet ID 320401 |