Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

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Source: Clinical Genetics - December 22, 2020 Category: Genetics & Stem Cells Authors: Abbasi-Moheb L, Westenberger A, Alotaibi M, Alghamdi MA, Hertecant JL, Ariamand A, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P Tags: Clin Genet Source Type: research