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 […]
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 […]
ACTA2 gene multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder that affects multiple organ systems within the body. This condition is characterized by a wide range of symptoms, due to the critical role that the ACTA2 gene plays in the function of smooth muscle cells. These cells are found throughout the body, including […]
In the realm of genetic testing, the MSTN gene muscle hypertrophy genetic test stands out for its unique ability to identify individuals who have a genetic predisposition to developing increased muscle mass. This condition, known as muscle hypertrophy, can have a significant impact on an individual’s physical capabilities and overall health. At DNA Labs UAE, […]
Symptoms of POMK Gene Muscle-Eye-Brain Disease Muscle-Eye-Brain (MEB) disease is a rare genetic disorder that affects the development of the muscles, eyes, and brain. This condition is caused by mutations in the POMK gene. The symptoms of MEB disease can vary significantly from one individual to another but generally include a combination of muscular, ocular, […]
Muscular dystrophy encompasses a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, LAMA2-related muscular dystrophy, specifically type 1A, is caused by mutations in the LAMA2 gene. This condition has garnered attention within the medical community due to its significant impact on individuals’ quality of […]
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome is a rare genetic disorder that affects various parts of the body, particularly the nervous and digestive systems. This condition is caused by mutations in the POLG gene, which plays a crucial role in the replication and repair of mitochondrial DNA. Unlike the typical form of MNGIE syndrome, there are […]
Understanding FKRP Gene Muscular Dystrophy Type 1C Muscular dystrophies are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, FKRP gene muscular dystrophy type 1C, also known as LGMD2I, is a rare form that is caused by mutations in the FKRP gene. This condition […]
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome is a rare genetic disorder that affects various systems within the body, particularly the nervous and digestive systems. This condition is caused by mutations in the TYMP gene, which plays a crucial role in maintaining the DNA within mitochondria, the energy-producing structures within cells. In some cases, MNGIE syndrome may […]
Muscular dystrophy is a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Among these, LARGE1 Gene Muscular Dystrophy Type 1D is a rare form that has garnered attention due to its unique genetic basis and the specific symptoms it presents. Understanding these symptoms is crucial 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.
