Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle that occurs
mainly due to mutations (> 1,400 variants) in genes encoding for the cardiac sarcomere …

Hypertrophic cardiomyopathy (HCM), a disease characterized by cardiac muscle
hypertrophy and hypercontractility, is the most frequently inherited disorder of the heart …

Muscle contraction relies on interaction between myosin-based thick filaments and actin-
based thin filaments. Myosin binding protein C (MyBP-C) is a key regulator of actomyosin …

A missense amino acid mutation of valine to aspartic acid in 567 position of alpha-
dystroglycan (DG), identified in dag1-mutated zebrafish, results in a reduced transcription …

Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic
disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the …

Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari
population the role of GJB2, the worldwide HHL major player, seems to be quite limited …

Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory
diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes …

Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant genetic
cardiovascular disorder marked by genetic and phenotypic heterogeneity. Mutations in the …

Since Wallace Brigden first used the term'cardiomyopathy'in 1952, this group of diseases
has continued to attract the interest of clinicians, researchers, and importantly, patients. The …

Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β‐
synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1: 1,800 births …