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Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
(John Wiley and Sons Inc., 2014)
Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy
(Medical Journals/Acta D-V, 2017)
Dynamin-2 nervous system disorders
(International Society for Neurochemistry, 2014)
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
(British Neuropathological Society, 2011)