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
1 Citation (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology