A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

Objective: To investigate the role of GDAP1 mutations in causing autosomal recessive neuropathies in an Italian population. Methods and results: 76 patients with severe early onset polyneuropathy and possible autosomal recessive inheritance were screened for mutations. A T>G transversion (c.347 T...

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Autores principales: Di, M, Gulli, R, Balestra, P, Cassandrini, D, Pigullo, S, Doria-Lamba, L, Bado, M, Schenone, A, Ajmar, F, Mandich, P, Bellone, E
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2004
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1738732/
https://ncbi.nlm.nih.gov/pubmed/15377708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.028100
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