Title: | Dominant GDAP1 mutations cause predominantly mild CMT phenotypes |
Journal : | Neurology, 77, 6 |
Authors: | Zimon M ; Baets J ; Fabrizi GM ; Jaakkola E ; Kabzinska D ; Pilch J ; Schindler AB ; Cornblath DR ; Fischbeck KH ; Auer Grumbach M ; Guelly C ; Huber N ; de Vriendt E ; Timmerman V ; Suter U ; Hausmanowa-Petrusewicz I ; Niemann A ; Kochanski A ; Jordanova A |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 540-548 |
Languages: | English |
Keywords : | adulthood ; biological assays ; Charcot-Marie-Tooth disease ; children ; CMT2 autosomal dominant form ; CMT2 autosomal recessive form ; cohort studies ; diagnosis ; differential diagnosis ; GDAP1 gene ; GDAP1 protein related disease ; genetic mutations ; haplotypes ; phenotypes ; review article ; teenagers |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21753178 |
Pubmed / DOI : | DOI : 10.1212/WNL.0b013e318228fc70 |