Title: | Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan |
Journal : | Physiological genomics, 50, 11 |
Authors: | Saha M, Author ; Saha M ; Reddy HM ; Salih MA ; Estrella E ; Jones MD ; Mitsuhashi S ; Cho KA ; Suzuki-Hatano S ; Rizzo SA ; Hamad MH ; Mukhtar MM ; Hamed AA ; Elseed MA ; Lek M ; Valkanas E ; Macarthur DG ; Kunkel LM ; Pacak CA ; Draper I ; Kang PB |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 929 |
Languages: | English |
Keywords: | CG10721;PYROXD1;exome sequencing;limb-girdle muscular dystrophy; |
Pubmed / DOI : | DOI : 10.1152/physiolgenomics.00036.2018 / Pubmed : 30345904 |
N° Profil MNM : | 2018102 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30345904 |