Diffuse abdominal lymphangiomatosis without tumoral masses: a case report.

Diffuse abdominal lymphangiomatosis is a rare and complex disease. It typically presents with non-specific gastrointestinal symptoms and characteristic cystic lesions or tumoral masses on imaging based on the literature to date. This report presents the rare case of a young man with an atypical form of diffuse abdominal lymphangiomatosis in the complete absence of cystic lesions or lymphangioma tumoral masses, thus presenting a unique diagnostic challenge.

Phosphorylation of α-dystrobrevin is essential for αkap accumulation and acetylcholine receptor stability.

The maintenance of a high density of the acetylcholine receptor (AChR) is the hallmark of the neuromuscular junction. Muscle-specific anchoring protein (αkap) encoded within the calcium/calmodulin-dependent protein kinase IIα (CAMK2A) gene is essential for the maintenance of AChR clusters both and in cultured muscle cells. The underlying mechanism by which αkap is maintained and regulated remains unknown.

The role of the dystrophin glycoprotein complex on the neuromuscular system.

The Dystrophin Glycoprotein Complex (DGC) is a large multi-protein complex that links cytoskeleton actin to the extracellular matrix. This complex is critical in maintaining the structural integrity of muscle fibers and the stability of the neuromuscular synapse. The DGC consists of dystrophin and its utrophin homolog, as well as dystroglycans, sarcoglycans, sarcospan, syntrophins, and dystrobrevins.