Introduction: The TTN gene is a large gene that encodes for titin, which plays an important role in the sarcomere. Although mutations in the TTN […]
OBJECTIVES: Duchenne Muscular Dystrophy (DMD) is a rare condition characterized by deterioration of muscle, resulting in loss of ambulation, decreased upper limb mobility, and impaired […]
Introduction: Duchenne Muscular Dystrophy (DMD) is one of the most frequent hereditary neuromuscular disorders in male worldwide. In Brazil, the characterization of disease is precarious, […]
Dystroglycanopathies are caused by defective glycosylation of ?-dystroglycan (?-DG). Pathogenic variants in related enzymes are typically ultra-rare with many unique to affected families. This results […]
BACKGROUND: Gestational Diabetes Mellitus (GDM) is a condition that arises mostly during the 2nd or 3rd trimesters of pregnancy characterized with elevation of blood glucose […]
Anoctamin 5 (ANO5) is a membrane protein belonging to the TMEM16/Anoctamin family and its deficiency leads to the development of limb girdle muscular dystrophy R12 […]
Anoctamin 5 (ANO5) is a membrane protein belonging to the TMEM16/Anoctamin family and its deficiency leads to the development of limb girdle muscular dystrophy R12 […]
Abstract: Limb girdle muscular dystrophies are among a subset of rare genetic disorders, usually caused by a monogenetic variant. There are many barriers to arriving […]
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Uninterrupted access to diagnosis and care for SMA […]