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Concurrent Sporadic Late-Onset Nemaline Myopathy and an Excessive Glycogen Accumulation Associated With Monoclonal Gammopathy.
📖 RevisãoAAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.
277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.
📖 RevisãoMonoclonal Gammopathy - the common denominator of sporadic late-onset nemaline myopathy and paraproteinemic neuropathy.
Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.