The foundation raises funds for medical research of myotubular myopathy, and other related congenital myopathies.
2.
Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy.
3.
Studies in patients with amyotrophic lateral sclerosis, spinal muscular atrophy, and congenital myopathy, also found altered expression of CARP in skeletal muscle fibers.
4.
North s laboratory research is focused on the molecular and genetic basis of inherited muscle disorders including muscular dystrophies and congenital myopathies, and of elite athletic performance.
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Mutations in the " RYR1 " gene are associated with malignant hyperthermia susceptibility, central core disease, minicore myopathy with external ophthalmoplegia and samaritan myopathy, a benign congenital myopathy.
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