Title: | Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease |
Journal : | Orphanet journal of rare diseases, 8, 104 |
Authors: | Kim HJ ; Hong YB ; Park JM ; Choi YR ; Kim YJ ; Yoon BR ; Koo H ; Yoo JH ; Kim SB ; Park M ; Chung KW ; Choi BO |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 1-11 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; CMT intermédiaire autosomique récessif ; genotype-phenotype correlation ; heterozygotes ; MRI ; nervous system histopathology ; pleckstrin protein related disease ; PLEKHG5 gene ; PLEKHG5 protein |
Abstract: |
Accès au résumé Pubmed/to pubmed abstract A correction for this article has been published in Orphanet Journal of Rare Diseases 2013, 8:165 |
Pubmed / DOI : | DOI : 10.1186/1750-1172-8-104 |
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Orphanet J Rare Dis 2013, 8-104, p. 1-11.pdf Adobe Acrobat PDF |