Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.
Clin Neuropathol
; 27(1): 1-12, 2008.
Article
en En
| MEDLINE
| ID: mdl-18257469
ABSTRACT
In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders associated with mutations in the LMNA and MED25 genes the number of patients is still too low to achieve reliable phenotype-genotype correlations. In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Genes Recesivos
Límite:
Humans
Idioma:
En
Revista:
Clin Neuropathol
Año:
2008
Tipo del documento:
Article
País de afiliación:
Polonia