Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred
Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579–585] in two siblings as ‘familial myopathy with probable lysis of...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2006-06, Vol.16 (6), p.357-360 |
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| creator | Dye, Danielle E. Azzarelli, Biagio Goebel, Hans H. Laing, Nigel G. |
| description | Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579–585] in two siblings as ‘familial myopathy with probable lysis of myofibrils in type I muscle fibres’. Two mutations in the slow skeletal myosin heavy chain gene (
MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in
MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy. |
| doi_str_mv | 10.1016/j.nmd.2006.03.011 |
| format | Article |
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MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in
MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/j.nmd.2006.03.011</identifier><identifier>PMID: 16684601</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Cardiac Myosins - genetics ; Child, Preschool ; DNA - genetics ; Exons - genetics ; Female ; Heterozygote ; Humans ; Male ; Muscle Fibers, Slow-Twitch - metabolism ; Muscle Fibers, Slow-Twitch - pathology ; Muscular Diseases - congenital ; Muscular Diseases - genetics ; Muscular Diseases - pathology ; Mutation ; Mutation - genetics ; Myofibrils - pathology ; Myosin ; Myosin Heavy Chains - genetics ; Myosin storage myopathy ; Myosins - metabolism</subject><ispartof>Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.357-360</ispartof><rights>2006 Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c351t-936853be24cb95eda4216e3c6e125a881ca880038b992f176e10768a94753f493</citedby><cites>FETCH-LOGICAL-c351t-936853be24cb95eda4216e3c6e125a881ca880038b992f176e10768a94753f493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0960896606000897$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16684601$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dye, Danielle E.</creatorcontrib><creatorcontrib>Azzarelli, Biagio</creatorcontrib><creatorcontrib>Goebel, Hans H.</creatorcontrib><creatorcontrib>Laing, Nigel G.</creatorcontrib><title>Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579–585] in two siblings as ‘familial myopathy with probable lysis of myofibrils in type I muscle fibres’. Two mutations in the slow skeletal myosin heavy chain gene (
MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in
MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy.</description><subject>Cardiac Myosins - genetics</subject><subject>Child, Preschool</subject><subject>DNA - genetics</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Muscle Fibers, Slow-Twitch - metabolism</subject><subject>Muscle Fibers, Slow-Twitch - pathology</subject><subject>Muscular Diseases - congenital</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Diseases - pathology</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Myofibrils - pathology</subject><subject>Myosin</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Myosin storage myopathy</subject><subject>Myosins - metabolism</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAQhi0EgvLxA1hQJgRDwjlOHFtMqAKKxMcCA2KwXOcKbpO42C6o_55UrdSN5U53eu6V7iHklEJGgfKrada1dZYD8AxYBpTukAEVFUtzxotdMgDJIRWS8wNyGMIUgJYVr_bJAeVcFBzogHw8ux9sktC43zTMsMGom6RdumC75CJ5eh9Vl0m7iDpa1yX9Ln5h4rz9tN2WC9F5_Ymrca7j1zKZ2a72WB-TvYluAp5s-hF5u7t9HY7Sx5f7h-HNY2pYSWMqGRclG2NemLEssdZFTjkyw5HmpRaCmr4AMDGWMp_Qqt9DxYWWRVWySSHZETlf5869-15giKq1wWDT6A7dIiguQLKCrUC6Bo13IXicqLm3rfZLRUGtjKqp6o2qlVEFTPVG-5uzTfhi3GK9vdgo7IHrNYD9iz8WvQrGYmewth5NVLWz_8T_ASJLhbo</recordid><startdate>20060601</startdate><enddate>20060601</enddate><creator>Dye, Danielle E.</creator><creator>Azzarelli, Biagio</creator><creator>Goebel, Hans H.</creator><creator>Laing, Nigel G.</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>20060601</creationdate><title>Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred</title><author>Dye, Danielle E. ; Azzarelli, Biagio ; Goebel, Hans H. ; Laing, Nigel G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c351t-936853be24cb95eda4216e3c6e125a881ca880038b992f176e10768a94753f493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Cardiac Myosins - genetics</topic><topic>Child, Preschool</topic><topic>DNA - genetics</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Muscle Fibers, Slow-Twitch - metabolism</topic><topic>Muscle Fibers, Slow-Twitch - pathology</topic><topic>Muscular Diseases - congenital</topic><topic>Muscular Diseases - genetics</topic><topic>Muscular Diseases - pathology</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Myofibrils - pathology</topic><topic>Myosin</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Myosin storage myopathy</topic><topic>Myosins - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dye, Danielle E.</creatorcontrib><creatorcontrib>Azzarelli, Biagio</creatorcontrib><creatorcontrib>Goebel, Hans H.</creatorcontrib><creatorcontrib>Laing, Nigel G.</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>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dye, Danielle E.</au><au>Azzarelli, Biagio</au><au>Goebel, Hans H.</au><au>Laing, Nigel G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2006-06-01</date><risdate>2006</risdate><volume>16</volume><issue>6</issue><spage>357</spage><epage>360</epage><pages>357-360</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579–585] in two siblings as ‘familial myopathy with probable lysis of myofibrils in type I muscle fibres’. Two mutations in the slow skeletal myosin heavy chain gene (
MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in
MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>16684601</pmid><doi>10.1016/j.nmd.2006.03.011</doi><tpages>4</tpages></addata></record> |
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| ispartof | Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.357-360 |
| issn | 0960-8966 1873-2364 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Cardiac Myosins - genetics Child, Preschool DNA - genetics Exons - genetics Female Heterozygote Humans Male Muscle Fibers, Slow-Twitch - metabolism Muscle Fibers, Slow-Twitch - pathology Muscular Diseases - congenital Muscular Diseases - genetics Muscular Diseases - pathology Mutation Mutation - genetics Myofibrils - pathology Myosin Myosin Heavy Chains - genetics Myosin storage myopathy Myosins - metabolism |
| title | Novel slow-skeletal myosin ( MYH7) mutation in the original myosin storage myopathy kindred |
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