Title: | WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon |
Journal : | Neurogenetics, 19, 2 |
Authors: | Masingue M, Author ; Perrot J ; Carlier RY ; Piguet-Lacroix G ; Latour P ; Stojkovic T |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 67 |
Languages: | English |
Keywords : | alternative splicing ; axonal forms of CMT ; case studies ; Charcot-Marie-Tooth disease ; clinical presentation ; CMT2 autosomal recessive form ; consanguinity ; GDAP1 gene ; GDAP1 protein related disease ; genetic analysis ; genetic diagnosis ; genetic mutations ; introns ; sequencing ; Sri Lanka ; terminator codons ; whole body MRI |
Keywords: | Axonal autosomal recessive inheritance;Charcot-Marie-Tooth disease;GDAP1 gene mutations;Intronic mutations;Whole-exome sequencing; |
Pubmed / DOI : | DOI : 10.1007/s10048-018-0539-7 / Pubmed : 29396836 |
N° Profil MNM : | 2018021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29396836 |