Article
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Clinical genetics - 1 Apr 2021
Abbasi-Moheb Lia, Westenberger Ana, Alotaibi Maha, Alghamdi Malak Ali, Hertecant Jozef L, Ariamand Amir, Beetz Christian, Rolfs Arndt, Bertoli-Avella Aida M, Bauer Peter
Abstract excerpt
Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been reported to cause congenital myopathy. We identified three patients manifesting with neonatal-onset generalized muscle weakness and motor delay that carried three novel...
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