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Introduction/Aims
Most patients with myasthenia gravis (MG) develop ocular manifestations during their illness and up to 22% may have isolated ocular myasthenia gravis (OMG). Apraclonidine elevates the eyelid by activating alpha‐2 receptors on Muller's muscle, an accessory eyelid elevator muscle. In this study we evaluate the effect of apraclonidine in alleviating ptosis secondary to MG.
Methods...
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To investigate the pathological role of C9ORF72 in these diseases, we generated a line of mice carrying a bacterial artificial chromosome containing exons 1 to 6 of the human C9ORF72 gene with approximately 500...
Introduction:Phosphoglycerate mutase deficiency (PGAM) is a rare metabolic myopathy that results in terminal block in glycogenolysis. Clinically, patients with PGAM deficiency are asymptomatic, except when they engage in brief, strenuous efforts, which may trigger myalgias, cramps, muscle necrosis, and myoglobinuria. An unusual pathologic feature of PGAM deficiency is the association with tubular...
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