Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease charcot-marie-tooth disease type 1a
Comorbidity C0235025|motor neuropathy
Sentences 1
PubMedID- 24041033 Both hereditary sensorimotor neuropathy due to pmp22 duplication (cmt1a) and facioscapulohumeral muscular dystrophy (fshd) due to a shortened fragment of the d4z4 locus (19 kb) were identified in the described patient.

Page: 1