S Justin Carlus
Carlus S, Almuzaini I, Karthikeyan M, Loganathan L, Al Harbi G, Abdallah A, et al
. Next-generation sequencing identifies a homozygous mutation in ACDAVL associated with pediatric familial dilated cardiomyopathy. Eur Rev Med Pharmacol Sci. 2019;23:1710-1721 pubmed publisher
..The ACADVL R450H mutation is an uncommon cause of the DCM phenotype that appears to be autosomal recessive. Targeted NGS is useful for identifying the causative mutation(s) in familial DCM of unknown genetic cause. ..
Abdallah A, Carlus S, Al Mazroea A, Alluqmani M, Almohammadi Y, Bhuiyan Z, et al
. Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy. Medicina (Kaunas). 2019;55: pubmed publisher
..We report of a novel p.Asp1309Asn variation associated with DCM. Targeted NGS is useful in the molecular diagnosis of DCM and to guide whole-family management and counselling. ..