Title: | Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease |
Journal : | Human mutation |
Authors: | Keller N ; Paketci C ; Altmueller J ; Fuhrmann N ; Wunderlich G ; Schrank B ; Unver O ; Yilmaz S ; Boostani R ; Karimiani EG ; Motameny S ; Thiele H ; Nurnberg P ; Maroofian R ; Yis U ; Wirth B ; Karakaya M |
Material Type: | Article |
Publisher: | United States, 18/02/2021 |
Languages: | English |
Keywords : | guidelines |
Keywords: | axonal CMT;exome sequencing;hereditary neuropathy;lower motor neuron disease;mitochondrial dysfunction;non-5q-SMA; |
Pubmed / DOI : | Pubmed : 33600046 / DOI : 10.1002/humu.24181 |
N° Profil MNM : | 2021022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33600046 |