Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy
Lia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, Malak Ali Alghamdi, Jozef L. Hertecant, Amir Ariamand, Christian Beetz, Arndt Rolfs, Aida M. Bertoli-Avella*, Peter Bauer
*Corresponding author for this work
9
Link opens in a new tab
Citations
(Scopus)