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• W2076299241 abstract "A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin deficiency in muscle and absent merosin in the endoneurium. Motor and sensory nerve conduction velocities were slow. Nerve biopsy showed reduction of large myelinated fibers, short internodes, enlarged nodes, excessive variability of myelin thickness, tomacula, and uncompacted myelin, but no evidence of segmental demyelination, naked axons, or onion bulbs. Thus, in congenital muscular dystrophy, merosin expression may be dissociated in different tissues, and the neuropathy is sensory-motor and due to abnormal myelinogenesis." @default.
• W2076299241 created "2016-06-24" @default.
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• W2076299241 date "2003-03-14" @default.
• W2076299241 modified "2023-09-24" @default.
• W2076299241 title "Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy" @default.
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• W2076299241 doi "https://doi.org/10.1002/mus.10326" @default.
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