Title: | Congenital myopathy is caused by mutation of HACD1 |
Journal : | Human molecular genetics, 22, 25 |
Authors: | Muhammad E ; Reish O ; Ohno Y ; Scheetz T ; de Luca A ; Searby C ; Regev M ; Benyamini L ; Fellig Y ; Kihara A ; Sheffield VC ; Parvari R |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 5229-5236 |
Languages: | English |
Keywords : | congenital myopathy ; consanguinity ; enzyme activity ; exon ; genetic linkage ; genetic mutations ; HACD1 gene ; histopathology ; long chain fatty acids ; muscle function ; nonsense mutations ; sequencing ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/23933735 |
Pubmed / DOI : | DOI : 10.1093/hmg/ddt380 |
See also : |