Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum
The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression i...
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| Veröffentlicht in: | Journal of neuromuscular diseases 2016-05, Vol.3 (2), p.267-274 |
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| container_title | Journal of neuromuscular diseases |
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| creator | Cruz, Simao Figueroa-Bonaparte, Sebastian Gallardo, Eduard de Becdelièvre, Alix Gartioux, Corine Allamand, Valérie Piñol, Patricia Garcia, Maria Angels Rodriguez Jiménez-Mallebriera, Cecilia Llauger, Jaume González-Rodríguez, Lidia Cortes-Vicente, Elena Illa, Isabel Díaz-Manera, Jordi |
| description | The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness. |
| doi_str_mv | 10.3233/JND-150135 |
| format | Article |
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Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. 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Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.</description><subject>Adult</subject><subject>Collagen Type VI - genetics</subject><subject>Collagen Type VI - metabolism</subject><subject>Contracture - diagnostic imaging</subject><subject>Contracture - genetics</subject><subject>Contracture - pathology</subject><subject>Contracture - physiopathology</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Fibroblasts - metabolism</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Middle Aged</subject><subject>Muscle, Skeletal - diagnostic imaging</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscular Dystrophies - congenital</subject><subject>Muscular Dystrophies - diagnostic imaging</subject><subject>Muscular Dystrophies - genetics</subject><subject>Muscular Dystrophies - pathology</subject><subject>Muscular Dystrophies - physiopathology</subject><subject>Mutation, Missense</subject><subject>Phenotype</subject><subject>Severity of Illness Index</subject><subject>Young Adult</subject><issn>2214-3599</issn><issn>2214-3602</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkF1LwzAUhoMobszd-AMkd4pQzWfbeaf78INNB7rrkjbp2tE2tUmR_nszunnlRTjh8JyXcx4ALjG6o4TS-7f3mYc5wpSfgCEhmHnUR-T0-OeTyQCMjdkhhHAQUo4m52BAgpAzgukQbJ-UzQpVwlWna2GzDq4zVWnb1cpAUUm40EWhf-CmfoAzZZImr22uK6hTGMK1sLmqrAMttJmCq7yQylg4d3MO2Lc-a5XYpi0vwFkqCqPGhzoCm8X8a_riLT-eX6ePSy8hPrFezFMsYsZCTFiCfIJCfyJ8JmicygBTRglJmUB-IJGUlHHunsSCEBkHUiQpHYGbPrdu9HfrlonK3CSqKESldGsiHDKMqc9Q4NDbHk0abUyj0qhu8lI0XYRRtHcbObdR79bBV4fcNi6V_EOPJh1w3QNGbFW0021TuTv_i_oFHgt-rA</recordid><startdate>20160527</startdate><enddate>20160527</enddate><creator>Cruz, Simao</creator><creator>Figueroa-Bonaparte, Sebastian</creator><creator>Gallardo, Eduard</creator><creator>de Becdelièvre, Alix</creator><creator>Gartioux, Corine</creator><creator>Allamand, Valérie</creator><creator>Piñol, Patricia</creator><creator>Garcia, Maria Angels Rodriguez</creator><creator>Jiménez-Mallebriera, Cecilia</creator><creator>Llauger, Jaume</creator><creator>González-Rodríguez, Lidia</creator><creator>Cortes-Vicente, Elena</creator><creator>Illa, Isabel</creator><creator>Díaz-Manera, Jordi</creator><general>SAGE Publications</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>20160527</creationdate><title>Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum</title><author>Cruz, Simao ; Figueroa-Bonaparte, Sebastian ; Gallardo, Eduard ; de Becdelièvre, Alix ; Gartioux, Corine ; Allamand, Valérie ; Piñol, Patricia ; Garcia, Maria Angels Rodriguez ; Jiménez-Mallebriera, Cecilia ; Llauger, Jaume ; González-Rodríguez, Lidia ; Cortes-Vicente, Elena ; Illa, Isabel ; Díaz-Manera, Jordi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c262t-b5f1ab448124c0620869a64a3bfd7134322f4a067d0dd3455345d1a22db7dacf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Collagen Type VI - genetics</topic><topic>Collagen Type VI - metabolism</topic><topic>Contracture - diagnostic imaging</topic><topic>Contracture - genetics</topic><topic>Contracture - pathology</topic><topic>Contracture - physiopathology</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Fibroblasts - metabolism</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Middle Aged</topic><topic>Muscle, Skeletal - diagnostic imaging</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscular Dystrophies - congenital</topic><topic>Muscular Dystrophies - diagnostic imaging</topic><topic>Muscular Dystrophies - genetics</topic><topic>Muscular Dystrophies - pathology</topic><topic>Muscular Dystrophies - physiopathology</topic><topic>Mutation, Missense</topic><topic>Phenotype</topic><topic>Severity of Illness Index</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cruz, Simao</creatorcontrib><creatorcontrib>Figueroa-Bonaparte, Sebastian</creatorcontrib><creatorcontrib>Gallardo, Eduard</creatorcontrib><creatorcontrib>de Becdelièvre, Alix</creatorcontrib><creatorcontrib>Gartioux, Corine</creatorcontrib><creatorcontrib>Allamand, Valérie</creatorcontrib><creatorcontrib>Piñol, Patricia</creatorcontrib><creatorcontrib>Garcia, Maria Angels Rodriguez</creatorcontrib><creatorcontrib>Jiménez-Mallebriera, Cecilia</creatorcontrib><creatorcontrib>Llauger, Jaume</creatorcontrib><creatorcontrib>González-Rodríguez, Lidia</creatorcontrib><creatorcontrib>Cortes-Vicente, Elena</creatorcontrib><creatorcontrib>Illa, Isabel</creatorcontrib><creatorcontrib>Díaz-Manera, Jordi</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 neuromuscular diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Cruz, Simao</au><au>Figueroa-Bonaparte, Sebastian</au><au>Gallardo, Eduard</au><au>de Becdelièvre, Alix</au><au>Gartioux, Corine</au><au>Allamand, Valérie</au><au>Piñol, Patricia</au><au>Garcia, Maria Angels Rodriguez</au><au>Jiménez-Mallebriera, Cecilia</au><au>Llauger, Jaume</au><au>González-Rodríguez, Lidia</au><au>Cortes-Vicente, Elena</au><au>Illa, Isabel</au><au>Díaz-Manera, Jordi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum</atitle><jtitle>Journal of neuromuscular diseases</jtitle><addtitle>J Neuromuscul Dis</addtitle><date>2016-05-27</date><risdate>2016</risdate><volume>3</volume><issue>2</issue><spage>267</spage><epage>274</epage><pages>267-274</pages><issn>2214-3599</issn><eissn>2214-3602</eissn><abstract>The classical phenotypes of collagen VI-associated myopathies are well described. Little is known, however, about the progression of patients at the mildest end of the clinical spectrum. In this report, we describe the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy. Our series highlights the existence of mild presentations of this disorder that progresses only slightly and can easily be overlooked. Analysis of the genetic studies suggests that missense mutations can be associated to a milder clinical presentation. Muscle MRI is extremely useful as it shows a pathognomonic pattern in most patients, especially those with some degree of muscle weakness.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>27854213</pmid><doi>10.3233/JND-150135</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 2214-3599 |
| ispartof | Journal of neuromuscular diseases, 2016-05, Vol.3 (2), p.267-274 |
| issn | 2214-3599 2214-3602 |
| language | eng |
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| source | Sage Journals GOLD Open Access 2024 |
| subjects | Adult Collagen Type VI - genetics Collagen Type VI - metabolism Contracture - diagnostic imaging Contracture - genetics Contracture - pathology Contracture - physiopathology Disease Progression Female Fibroblasts - metabolism Follow-Up Studies Humans Magnetic Resonance Imaging Middle Aged Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Muscular Dystrophies - congenital Muscular Dystrophies - diagnostic imaging Muscular Dystrophies - genetics Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology Mutation, Missense Phenotype Severity of Illness Index Young Adult |
| title | Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum |
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