Muscular dystrophies are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, dystroglycanopathies represent a subgroup caused by abnormalities in the glycosylation of alpha-dystroglycan, an essential component for muscle fiber integrity and neuronal migration. The POMGNT1 gene, associated with muscular dystrophy-dystroglycanopathy congenital with brain […]
Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among these, the POMT2 gene-related muscular dystrophy, also known as Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A2, is a rare but severe form. This condition is caused by mutations in the POMT2 gene, which plays a crucial role […]
Symptoms of B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, also known as Type A13, is a rare genetic disorder caused by mutations in the B4GAT1 gene. This condition is part of a group of diseases known as limb-girdle muscular dystrophies, which are […]
Symptoms of RXYLT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A10 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, also known as Type A10, is a rare genetic disorder caused by mutations in the RXYLT1 gene. This condition is part of a group of diseases known as limb-girdle muscular dystrophies, which are […]
Understanding the symptoms of a genetic condition is crucial for early diagnosis and management. One such condition is Muscular Dystrophy Oculopharyngeal (OPMD), which is associated with mutations in the PABPN1 gene. DNA Labs UAE offers a comprehensive genetic test for this condition, providing insights into your genetic health and guiding you towards appropriate interventions. This […]
Understanding the intricacies of genetic conditions is crucial for effective diagnosis and management. One such condition that has garnered attention in the medical community is Muscular Dystrophy Limb-Girdle Type 2Q, associated with mutations in the PLEC gene. DNA Labs UAE is at the forefront of offering comprehensive genetic testing services, including the PLEC Gene Muscular […]
Symptoms of CAPN3 Gene Muscular Dystrophy Limb-Girdle Type 2A Limb-girdle muscular dystrophy type 2A (LGMD2A), also known as Calpainopathy, is a form of muscular dystrophy that primarily affects the voluntary muscles around the hips and shoulders (the limb-girdle muscles). It is caused by mutations in the CAPN3 gene, which encodes the muscle-specific enzyme calpain 3. […]
Symptoms of DMD Gene Muscular Dystrophy Duchenne Type Genetic Test Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD symptom onset is in early childhood, usually between ages 3 to 5. The […]
— Muscular dystrophies are a group of genetic disorders characterized by progressive muscle weakness and degeneration. Among these, the CHKB gene muscular dystrophy congenital megaconial type stands out due to its unique symptoms and genetic basis. DNA Labs UAE is at the forefront of diagnosing this condition through advanced genetic testing, specifically designed to identify […]
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, a rare form is linked to mutations in the LMNA gene, known as LMNA-related congenital muscular dystrophy. DNA Labs UAE offers a comprehensive genetic test for this condition, providing essential information for […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
