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A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Amokelani C MahunguNomakhosazana MonnakgotlaMelissa NelJeannine M Heckmann
Published in: Orphanet journal of rare diseases (2022)
Review of genetic variants reported in hereditary spastic paraplegia in Africans Review of genetic variants reported in genetic neuropathies in Africans Review of genetic underpinnings of spinal muscular atrophies in Africans Assessment of pathogenic evidence for candidate variants.
Keyphrases
  • copy number
  • genome wide
  • spinal cord
  • gene expression
  • dna methylation
  • upper limb
  • botulinum toxin
  • spinal cord injury
  • clinical evaluation