eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary motor and sensory neuropathy v |
| Comorbidity | C0270921|axonal neuropathy |
| Sentences | 2 |
| 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). |
| PubMedID- 21321493 | hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of spg3a in a large family. |
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