Title: | Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene |
Journal : | European journal of paediatric neurology, 8 |
Authors: | Kochanski A ; Kabzinska D ; Drac H ; Ryniewicz B ; Rowinska-Marcinska K ; Hausmanowa-Petrusewicz I |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p. 221-224 |
Languages: | English |
Keywords : | age of disease onset ; case studies ; children ; demyelinating forms of CMT ; demyelination ; disease evolution ; early onset disease ; electrodiagnosis ; exon ; female ; genetic mutations ; guanine ; leucine ; MPZ gene ; myelin protein zero ; nerve biopsies ; nucleotide sequences ; PCR ; PMP22 gene ; skeletal muscle ; SSCP |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15261887 |