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admin September 6, 2018

Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominant mutations in DNAJB6. This ubiquitously expressed co-chaperone interacts with the HSPA (Hsp70) chaperones and promotes their function, and also acts as a powerful suppressor or protein aggregation. Until recently, all of the known LGMD1D-causing mutations in DNAJB6 were located relatively close to each other within the glycine/phenylalanine-rich (GF) domain of the protein.… Read More...

admin September 6, 2018

Muscle cells are characterized by the presence of multiple nuclei evenly spaced under the plasma membrane. Whether this particular arrangement is required for muscle function is still under debate. Nonetheless, several muscular diseases are characterized by abnormal nuclear positioning, such as centronuclear myopathies, titinopathies and desminopathies or due to mutations of nuclear envelope proteins known to be involved in nuclear movement in other systems.… Read More...

admin September 6, 2018

Evidence from controlled clinical trials has established IVIG as a first line therapy for inflammatory autoimmune neuropathies such as Guillain-Barre syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and multifocal motor neuropathy (MMN). Several infusion-related reactions are well documented in the literature, including common reactions such as headache, myalgia and chills.… Read More...

admin May 12, 2018

Journal of Neurosurgery: Pediatrics, Ahead of Print.
OBJECTIVEDeformational plagiocephaly and/or brachycephaly (DPB) is a cranial flattening frequently treated in pediatric craniofacial centers. The standard of care for DPB involves patient positioning or helmet therapy. Orthotic therapy successfully reduces cranial asymmetry, but there is concern over whether the orthotics have the potential to restrict cranial growth.… Read More...

admin September 14, 2017

Collagen VI-related congenital muscular dystrophies (COL6-CMD) are the second most common diagnosis in congenital muscular dystrophies, according to a recent retrospective review performed by our centre on genetic studies in childhood neuromuscular diseases in the UK population. The collagen VI-related myopathies, ranging from severe Ullrich congenital muscular dystrophy (UCMD) to mild Bethlem myopathy (BM) and intermediate clinical phenotypes, are caused by mutations in one of the genes that encode the three major α-chains of collagen type VI, COL6A1, COL6A2 and COL6A3.… Read More...

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