ISSN:
1364-6753
Keywords:
Key words Charcot-Marie-Tooth disease
;
Hereditary motor and sensory neuropathy
;
Hereditary neuropathy with liability to pressure palsies
;
Peripheral myelin genes
;
Molecular genetics
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
ABSTRACT The recent progress of molecular genetics has considerably increased our knowledge about the underlying disease mechanism of inherited peripheral neuropathies. Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination. This review focuses on the correlation of the different human phenotypes associated with distinct mutations with those found in cellular and animal models.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100480050074
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