Centronuclear myopathy with type I fibre hypotrophy and “Fingerprint” inclusions associated with Marfan's syndrome
The authors present results of histological and electron-microscopical investigations of muscular tissue obtained by biopsy from a 20-year-old man, who showed typical features of Marfan's syndrome associated with slowly progressive muscular weakness. The muscle showed a peculiar combination of...
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| Veröffentlicht in: | Journal of the neurological sciences 1980-01, Vol.45 (1), p.43-56 |
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| container_end_page | 56 |
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| container_issue | 1 |
| container_start_page | 43 |
| container_title | Journal of the neurological sciences |
| container_volume | 45 |
| creator | Jadro-Šantel, Dubravka Grčevič, Nenad Dogan, Sergije Franjič, Jasna Benc, Helena |
| description | The authors present results of histological and electron-microscopical investigations of muscular tissue obtained by biopsy from a 20-year-old man, who showed typical features of Marfan's syndrome associated with slowly progressive muscular weakness. The muscle showed a peculiar combination of centronuclear myopathy with hypotrophy of type I fibres and the so called “fingerprint myopathy”. The combination of such myopathic phenomena with Marfan's syndrome presents a unique and hitherto undescribed condition. |
| doi_str_mv | 10.1016/S0022-510X(80)80005-0 |
| format | Article |
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The muscle showed a peculiar combination of centronuclear myopathy with hypotrophy of type I fibres and the so called “fingerprint myopathy”. 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The combination of such myopathic phenomena with Marfan's syndrome presents a unique and hitherto undescribed condition.</description><subject>Adult</subject><subject>Cell Nucleus - ultrastructure</subject><subject>Humans</subject><subject>Inclusion Bodies - ultrastructure</subject><subject>Male</subject><subject>Marfan Syndrome - pathology</subject><subject>Muscle Hypotonia - pathology</subject><subject>Muscles - pathology</subject><subject>Muscular Atrophy - pathology</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1uFDEQRq0oKBkCR4jkVYBFQ7n_7FkhNCIQKYgFILGzbHd1xlG33bHdQb3LQeByOQlOZpRtVrX4XlXpe4ScMnjPgLUffgCUZdEw-P1WwDsBAE0BB2TFBBdFI0R1SFZPyDF5GeN1Zloh1kfkqC3ruuJsRW436FLwbjYDqkDHxU8qbRf6x6YtTcuE9IL2Vgek22XymZxyqFxH7-_-nlt3hWEK1qX7u3_UOjPM0XoXqYrRG6sSdrtD31TolXsTaVxcF_yIr8iLXg0RX-_nCfl1_vnn5mtx-f3LxebTZWGqFlIhWNUJpVRdC4SGC6P6livdYm_aXusGBZRQ6rUyyPXa1DXjla51LoktsBKrE3K2uzsFfzNjTHK00eAwKId-jpI3UHPBWQabHWiCjzFgL3OvUYVFMpAPvuWjb_kgUwqQj74l5L3T_YNZj9g9be0F5_zjLsfc8tZikNFYdAY7G9Ak2Xn7zIf_6SaU5A</recordid><startdate>19800101</startdate><enddate>19800101</enddate><creator>Jadro-Šantel, Dubravka</creator><creator>Grčevič, Nenad</creator><creator>Dogan, Sergije</creator><creator>Franjič, Jasna</creator><creator>Benc, Helena</creator><general>Elsevier B.V</general><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>7X8</scope></search><sort><creationdate>19800101</creationdate><title>Centronuclear myopathy with type I fibre hypotrophy and “Fingerprint” inclusions associated with Marfan's syndrome</title><author>Jadro-Šantel, Dubravka ; Grčevič, Nenad ; Dogan, Sergije ; Franjič, Jasna ; Benc, Helena</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c360t-813d8aaa448e0578caf67ab6efc6fbb5e80202b9ace7b9c44173b4b688e6012e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Adult</topic><topic>Cell Nucleus - ultrastructure</topic><topic>Humans</topic><topic>Inclusion Bodies - ultrastructure</topic><topic>Male</topic><topic>Marfan Syndrome - pathology</topic><topic>Muscle Hypotonia - pathology</topic><topic>Muscles - pathology</topic><topic>Muscular Atrophy - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jadro-Šantel, Dubravka</creatorcontrib><creatorcontrib>Grčevič, Nenad</creatorcontrib><creatorcontrib>Dogan, Sergije</creatorcontrib><creatorcontrib>Franjič, Jasna</creatorcontrib><creatorcontrib>Benc, Helena</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jadro-Šantel, Dubravka</au><au>Grčevič, Nenad</au><au>Dogan, Sergije</au><au>Franjič, Jasna</au><au>Benc, Helena</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Centronuclear myopathy with type I fibre hypotrophy and “Fingerprint” inclusions associated with Marfan's syndrome</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1980-01-01</date><risdate>1980</risdate><volume>45</volume><issue>1</issue><spage>43</spage><epage>56</epage><pages>43-56</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><abstract>The authors present results of histological and electron-microscopical investigations of muscular tissue obtained by biopsy from a 20-year-old man, who showed typical features of Marfan's syndrome associated with slowly progressive muscular weakness. 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| fulltext | fulltext |
| identifier | ISSN: 0022-510X |
| ispartof | Journal of the neurological sciences, 1980-01, Vol.45 (1), p.43-56 |
| issn | 0022-510X 1878-5883 |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adult Cell Nucleus - ultrastructure Humans Inclusion Bodies - ultrastructure Male Marfan Syndrome - pathology Muscle Hypotonia - pathology Muscles - pathology Muscular Atrophy - pathology |
| title | Centronuclear myopathy with type I fibre hypotrophy and “Fingerprint” inclusions associated with Marfan's syndrome |
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