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.
MeSH terms
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Adult
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DNA Mutational Analysis
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / metabolism*
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Hereditary Sensory and Motor Neuropathy / physiopathology
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Humans
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Immunohistochemistry
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Laminin / deficiency*
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Laminin / genetics
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Male
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Microscopy, Electron
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Muscle Proteins / genetics
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Muscle Proteins / metabolism
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Dystrophies / complications*
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Muscular Dystrophies / genetics
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Muscular Dystrophies / metabolism
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Myelin Sheath / pathology
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Myelin Sheath / ultrastructure
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Nerve Fibers, Myelinated / metabolism
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Nerve Fibers, Myelinated / pathology
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Nerve Fibers, Myelinated / ultrastructure
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Neural Conduction / genetics
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Peripheral Nerves / metabolism
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Peripheral Nerves / pathology*
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Peripheral Nerves / physiopathology
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Sural Nerve / metabolism
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Sural Nerve / pathology
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Sural Nerve / physiopathology