A review of genetic counseling for Charcot Marie Tooth disease (CMT).
J Genet Couns
; 22(4): 422-36, 2013 Aug.
Article
en En
| MEDLINE
| ID: mdl-23604902
ABSTRACT
Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT (PMP22, GJB1, MPZ, MFN2), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Asesoramiento Genético
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Año:
2013
Tipo del documento:
Article