SPG7Spastic Paraplegia 7
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References in periodicals archive ?
Hoffman et al., "SPG7 is an essential and conserved component of the mitochondrial permeability transition pore," Molecular Cell, vol.
SPG5 SPG7 and SPG11 are responsible for most cases of autosomal recessive FSPs13.
In this context, one of the most studied genes is paraplegin (SPG7), a mitochondrial metalloprotease belonging to the family of ATPases associated with diverse cellular activities (AAA) [96, 97], whose mutations result in mitochondrial dysfunction of muscle tissue and mitochondrial-dependent impairment of axonal transport [98, 99].