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A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation
(Lippincott Williams and Wilkins, 2009)
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
(British Neuropathological Society, 2011)
Further insights in nemaline myopathy (NM) with hyaline masses
(Elsevier, 2017)