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PedAM

Pediatric Disease Annotations & Medicines




Disease axonal neuropathy
Phenotype C0037773|hereditary spastic paraplegia
Sentences 2
PubMedID- 21321493 hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of spg3a in a large family.
PubMedID- 25008398 Objective: to establish the phenotypic spectrum of kif5a mutations and to investigate whether kif5a mutations cause axonal neuropathy associated with hereditary spastic paraplegia (hsp) or typical charcot-marie-tooth disease type 2 (cmt2).

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