Title: | Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review |
Journal : | Skeletal Muscle, 12, 1 |
Authors: | Magri F ; Antognozzi S ; Ripolone M ; Zanotti S ; Napoli L ; Ciscato P ; Velardo D ; Scuvera G ; Nicotra V ; Giacobbe A ; Milani D ; Fortunato F ; Garbellini M ; Sciacco M ; Corti S ; Comi GP ; Ronchi D |
Material Type: | Article |
Publication Date: | 29/09/2022 |
Size: | p 23 |
Languages: | English |
Keywords : | case studies ; children ; choline kinase bêta ; congenital myopathy ; histopathology ; male ; megaconial myopathy ; phenotypes ; review article |
Keywords: | Choline kinase beta (CHKB) ; Enlarged mitochondria ; Megaconial congenital muscular dystrophy ; Mitochondrial dynamics |
Lien associé : | Texte complet disponible sur PubMed Central (PMC) |
Pubmed / DOI : | Pubmed : 36175989 / DOI : 10.1186/s13395-022-00306-8 |
N° Profil MNM : | 2022092 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/36175989 |