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Article

A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.

European review for medical and pharmacological sciences - 1 Jul 2020

Carlus S J, Almuzaini I S, Karthikeyan M, Loganathan L, Al-Harbi G S, Carlus F H, Al-Mazroea A H, Morsy M M, Abo-Haded H M, Abdallah A M, Al-Harbi K M

Abstract excerpt

OBJECTIVE: Familial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. While sarcomeric gene mutations explain many HCM cases, the genetic basis of about half of HCM cases remains elusive. Here we aimed to identify the gene causing HCM in a non-consanguineous Saudi Arabian family with affected family members and a history of sudden death. The impact of the identified mutation on protein...

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Identifiers

PMID: 32744700
DOI: 10.26355/eurrev_202007_22299

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