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Myopathy,_X-linked,_with_excessive_autophagy&action=edit&redlink=1
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- Perspectives on distal myopathy with rimmed vacuoles or hereditary inc...
- Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase...
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Uploaded: 2008-7-24
- Zebra body myopathy: a second case of ultrastructurally distinct conge...
- Biopsy of the deltoid muscle of a 4-day-old baby boy with congenital hypotonia and weakness showed zebra bodies and other myopathic changes. Our patient and an other patient reported in the literature...
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Uploaded: 1987-10-1
- Nonspecific congenital myopathy (minimal change myopathy): a case repo...
- A 28-month-old male with generalized hypotonia and muscle weakness, a myopathic face, skeletal dysmorphism and delayed motor milestones from birth is reported. He gradually developed the ability of si...
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Uploaded: 1987-1-1
- The descending ocular myopathy of early childhood; myotubular or centr...
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Uploaded: 1970-1-1
- Pathological cases of the month. Myotubular myopathy (centronuclear my...
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Uploaded: 1993-8-1
- Symposium: metabolism in neurological disorders. 3. Myopathy. 3-(2). ...
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Uploaded: 1972-9-1
- Sarcoplasmic body myopathy--a rare hereditary myopathy with characteri...
- OBJECTIVES: To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy. MATERIALS AND METHODS: Part of the pedigree was described i...
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Uploaded: 2005-9-9
- SERCA1 and calsequestrin storage myopathy: a new surplus protein myopa...
- We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle s...
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Uploaded: 2006-5-23