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PedAM

Pediatric Disease Annotations & Medicines




Disease neuropathy
Phenotype C0007959|charcot-marie-tooth disease
Sentences 5
PubMedID- 26376783 Furthermore, in humans, mutations in mitochondrial genes frequently result in the development of painful peripheral neuropathy, as seen in patients with charcot-marie-tooth disease [6].
PubMedID- 23197742 Compound charcot-marie-tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel mpz mutation.
PubMedID- 22996176 Corneal confocal microscopy detects small-fiber neuropathy in charcot-marie-tooth disease type 1a patients.
PubMedID- 23797954 Importance: no current medications improve neuropathy in subjects with charcot-marie-tooth disease type 1a (cmt1a).
PubMedID- 21252112 Missense or nonsense mutations also cause more severe charcot-marie-tooth disease type 1a forms of infancy or hereditary neuropathy with liability to pressure palsies, but they are presumably very rare.

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