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Clinical mitochondrial genetics.
Chinnery PF, Howell N, Andrews RM, Turnbull DM. Chinnery PF, et al. J Med Genet. 1999 Jun;36(6):425-36. J Med Genet. 1999. PMID: 10874629 Free PMC article. Review.
Well established nuclear genetic diseases, such as Friedreich's ataxia,(12) Wilson disease,(3) and autosomal recessive hereditary spastic paraplegia,(4) have been shown to have a mitochondrial basis, and we are just starting to unravel the complex nucl …
Well established nuclear genetic diseases, such as Friedreich's ataxia,(12) Wilson disease,(3) and autosomal recessive hereditary …
Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia.
Chen X, Li X, Tan Y, Yang D, Lu L, Deng Y, Xu R. Chen X, et al. Neurosci Lett. 2023 Aug 24;812:137399. doi: 10.1016/j.neulet.2023.137399. Epub 2023 Jul 19. Neurosci Lett. 2023. PMID: 37473796
BACKGROUND: Hereditary spastic paraplegia 4 (SPG4) caused by spastin (SPAST) gene mutations accounts for 40-45% of hereditary spastic paraplegia (HSP) cases. ...
BACKGROUND: Hereditary spastic paraplegia 4 (SPG4) caused by spastin (SPAST) gene mutations accounts for 40-45% …