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Congenital Myopathies
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The congenital myopathies are rare genetic conditions that cause muscle weakness of variable severity. Some affected patients may develop symptoms at birth, while others may develop symptoms in childhood or adulthood. The associated weakness may impact various abilities, including walking, breathing, and feeding. This project is focused on trying to better understand the genes and proteins involved in the congenital myopathies by identifying new candidate genes, screening affected patients, developing phenotype/genotype correlations, and exploring gene and protein expression in affected muscle, all with the goal of eventually developing effective therapies. Expression analysis methods include microarray analysis and functional studies. Our focus includes nemaline myopathy, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore myopathy, and other undefined congenital myopathies.
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Alan H. Beggs, PhD
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For more information about this study, please click here.
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