Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy
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...
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| Veröffentlicht in: | Muscle & nerve 2003-04, Vol.27 (4), p.500-506 |
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| creator | Di Muzio, A. De Angelis, M.V. Di Fulvio, P. Ratti, A. Pizzuti, A. Stuppia, L. Gambi, D. Uncini, A. |
| description | 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. Muscle Nerve 27:
500–506, 2003 |
| doi_str_mv | 10.1002/mus.10326 |
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500–506, 2003</description><subject>Adult</subject><subject>Allium cepa</subject><subject>Biological and medical sciences</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA Mutational Analysis</subject><subject>dysmyelinating sensory-motor neuropathy</subject><subject>Hereditary Sensory and Motor Neuropathy - genetics</subject><subject>Hereditary Sensory and Motor Neuropathy - metabolism</subject><subject>Hereditary Sensory and Motor Neuropathy - physiopathology</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>LAMA2 gene</subject><subject>Laminin - deficiency</subject><subject>Laminin - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>merosin-deficient congenital muscular dystrophy</subject><subject>Microscopy, Electron</subject><subject>Muscle Proteins - genetics</subject><subject>Muscle Proteins - metabolism</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Muscular Dystrophies - complications</subject><subject>Muscular Dystrophies - genetics</subject><subject>Muscular Dystrophies - metabolism</subject><subject>Myelin Sheath - pathology</subject><subject>Myelin Sheath - ultrastructure</subject><subject>Nerve Fibers, Myelinated - metabolism</subject><subject>Nerve Fibers, Myelinated - pathology</subject><subject>Nerve Fibers, Myelinated - ultrastructure</subject><subject>nerve morphometry</subject><subject>Neural Conduction - genetics</subject><subject>Neurology</subject><subject>Peripheral Nerves - metabolism</subject><subject>Peripheral Nerves - pathology</subject><subject>Peripheral Nerves - physiopathology</subject><subject>Sural Nerve - metabolism</subject><subject>Sural Nerve - pathology</subject><subject>Sural Nerve - physiopathology</subject><subject>sural nerve biopsy</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0E1P3DAQBmALtWKXj0P_QJVLkTik2I5jx8cC7bZlAYkPUe3Fsh0HXBJnaydq8-_rVVL2VHHyHJ53xjMAvEPwI4IQnzR9iEWG6Q6YI8hZSnJevAFziEiR0oz_mIG9EH5CCFFB2S6YIUwpgjmZg9X5EJrB1NbJzrrHJBgXWj-kTdu1PnGm9-1adk9DYl3SGN8G69LSVFZb47pEt-7RONvJOol_0H0tfVIOoYuhp-EAvK1kHczh9O6D-y-f786-psvrxbezT8tUEwxpmhWEYYoVgjqDTEnNC81ZqThVpChUpTnCZYaJKnGlNCM0z7HUkMgKM6V5nu2Do7Hv2re_ehM60digTV1LZ9o-CJYhzGH-OkScIEgoi_B4hDouHLypxNrbRvpBICg2FxfNhm8uHu37qWmvGlNu5XTiCD5MQAYt68pLp23YujgQ5xhHdzK637Y2w_8nisv723-j0zFhQ2f-vCSkfxZxCZaLh6uFWJxe3HznxalYZX8BWISooA</recordid><startdate>200304</startdate><enddate>200304</enddate><creator>Di Muzio, A.</creator><creator>De Angelis, M.V.</creator><creator>Di Fulvio, P.</creator><creator>Ratti, A.</creator><creator>Pizzuti, A.</creator><creator>Stuppia, L.</creator><creator>Gambi, D.</creator><creator>Uncini, A.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>200304</creationdate><title>Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy</title><author>Di Muzio, A. ; De Angelis, M.V. ; Di Fulvio, P. ; Ratti, A. ; Pizzuti, A. ; Stuppia, L. ; Gambi, D. ; Uncini, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4206-3847262b10c307bac98c97db96b488bfc912d324bd2fbc746552ac04af27bc953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Allium cepa</topic><topic>Biological and medical sciences</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA Mutational Analysis</topic><topic>dysmyelinating sensory-motor neuropathy</topic><topic>Hereditary Sensory and Motor Neuropathy - genetics</topic><topic>Hereditary Sensory and Motor Neuropathy - metabolism</topic><topic>Hereditary Sensory and Motor Neuropathy - physiopathology</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>LAMA2 gene</topic><topic>Laminin - deficiency</topic><topic>Laminin - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>merosin-deficient congenital muscular dystrophy</topic><topic>Microscopy, Electron</topic><topic>Muscle Proteins - genetics</topic><topic>Muscle Proteins - metabolism</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscle, Skeletal - physiopathology</topic><topic>Muscular Dystrophies - complications</topic><topic>Muscular Dystrophies - genetics</topic><topic>Muscular Dystrophies - metabolism</topic><topic>Myelin Sheath - pathology</topic><topic>Myelin Sheath - ultrastructure</topic><topic>Nerve Fibers, Myelinated - metabolism</topic><topic>Nerve Fibers, Myelinated - pathology</topic><topic>Nerve Fibers, Myelinated - ultrastructure</topic><topic>nerve morphometry</topic><topic>Neural Conduction - genetics</topic><topic>Neurology</topic><topic>Peripheral Nerves - metabolism</topic><topic>Peripheral Nerves - pathology</topic><topic>Peripheral Nerves - physiopathology</topic><topic>Sural Nerve - metabolism</topic><topic>Sural Nerve - pathology</topic><topic>Sural Nerve - physiopathology</topic><topic>sural nerve biopsy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Di Muzio, A.</creatorcontrib><creatorcontrib>De Angelis, M.V.</creatorcontrib><creatorcontrib>Di Fulvio, P.</creatorcontrib><creatorcontrib>Ratti, A.</creatorcontrib><creatorcontrib>Pizzuti, A.</creatorcontrib><creatorcontrib>Stuppia, L.</creatorcontrib><creatorcontrib>Gambi, D.</creatorcontrib><creatorcontrib>Uncini, A.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Di Muzio, A.</au><au>De Angelis, M.V.</au><au>Di Fulvio, P.</au><au>Ratti, A.</au><au>Pizzuti, A.</au><au>Stuppia, L.</au><au>Gambi, D.</au><au>Uncini, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2003-04</date><risdate>2003</risdate><volume>27</volume><issue>4</issue><spage>500</spage><epage>506</epage><pages>500-506</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><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. Muscle Nerve 27:
500–506, 2003</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>12661054</pmid><doi>10.1002/mus.10326</doi><tpages>7</tpages></addata></record> |
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| subjects | Adult Allium cepa Biological and medical sciences Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis dysmyelinating sensory-motor neuropathy Hereditary Sensory and Motor Neuropathy - genetics Hereditary Sensory and Motor Neuropathy - metabolism Hereditary Sensory and Motor Neuropathy - physiopathology Humans Immunohistochemistry LAMA2 gene Laminin - deficiency Laminin - genetics Male Medical sciences merosin-deficient congenital muscular dystrophy Microscopy, Electron Muscle Proteins - genetics Muscle Proteins - metabolism Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscle, Skeletal - physiopathology Muscular Dystrophies - complications Muscular Dystrophies - genetics Muscular Dystrophies - metabolism Myelin Sheath - pathology Myelin Sheath - ultrastructure Nerve Fibers, Myelinated - metabolism Nerve Fibers, Myelinated - pathology Nerve Fibers, Myelinated - ultrastructure nerve morphometry Neural Conduction - genetics Neurology Peripheral Nerves - metabolism Peripheral Nerves - pathology Peripheral Nerves - physiopathology Sural Nerve - metabolism Sural Nerve - pathology Sural Nerve - physiopathology sural nerve biopsy |
| title | Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy |
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