Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles [PDF]
, 2004 S. Noguchi +11 more
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Japanese Circulation Journal, 1993 Two-dimensional echocardiography, cardiac catheterization, electrophysiologic studies, and biopsies of cardiac and skeletal muscle were performed in a patient with complete atrioventricular block as the initial manifestation of restrictive cardiomyopathy. The patient also showed distal myopathy with rimmed vacuoles.
S, Ishiwata +3 more
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A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy [PDF]
, 2006 May Christine V. Malicdan +4 more
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A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy [PDF]
, 2007 May Christine V. Malicdan +4 more
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P.074 Clinical features of a family with distal myopathy and rimmed vacuoles due to a digenic interaction [PDF]
, 2018 CS Pontifex +3 more
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Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]
, 2006 Byoung Joon Kim +5 more
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Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]
, 2005 Byoung Joon Kim +5 more
openalex +1 more source
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy [PDF]
, 2007 May Christine V. Malicdan +4 more
openalex +1 more source