Tubular aggregate myopathy associated with retinal degeneration
Abstract Case report: We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. Comments: Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the...
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| Veröffentlicht in: | Canadian journal of ophthalmology 2008-06, Vol.43 (3), p.361-363 |
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| container_title | Canadian journal of ophthalmology |
| container_volume | 43 |
| creator | Parulekar, Manoj V., FRCS Halliday, William, MD, FRSPC Brent, Michael, MD, FRCSC Kong, Kester, MD, FRCPC Wong, Agnes M.F., MD, PhD, FRCSC |
| description | Abstract Case report: We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. Comments: Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only. The abnormal functioning of the smooth muscles of the pupillary dilator, together with retinal degeneration in our patient, suggests that tubular aggregates may represent a more generalized disequilibrium of intracellular calcium homeostasis that may not be confined to skeletal muscles. |
| doi_str_mv | 10.3129/i08-038 |
| format | Article |
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Comments: Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only. 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Comments: Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only. The abnormal functioning of the smooth muscles of the pupillary dilator, together with retinal degeneration in our patient, suggests that tubular aggregates may represent a more generalized disequilibrium of intracellular calcium homeostasis that may not be confined to skeletal muscles.</description><subject>Adult</subject><subject>Electroretinography</subject><subject>Female</subject><subject>Fluorescein Angiography</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Muscle, Skeletal - pathology</subject><subject>Myopathies, Structural, Congenital - complications</subject><subject>Myopathies, Structural, Congenital - diagnosis</subject><subject>Night Blindness - etiology</subject><subject>Ophthalmology</subject><subject>retinal degeneration</subject><subject>Retinal Degeneration - complications</subject><subject>Retinal Degeneration - diagnosis</subject><subject>Sarcoplasmic Reticulum - pathology</subject><subject>tubular aggregate myopathy</subject><subject>Vision Disorders - etiology</subject><subject>Visual Field Tests</subject><subject>Visual Fields</subject><issn>0008-4182</issn><issn>1715-3360</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkV1LwzAUhoMobk7xH0iv9Kp6krRpdqPI8AsGXjivQ5qcdZldO5NW2b83YwNBvDrk5ckL5zmEnFO45pSNbxzIFLg8IENa0DzlXMAhGQLEOKOSDchJCEsAzotMHJMBlVkWETEkd7O-7GvtE11VHivdYbLatGvdLTaJDqE1LkY2-XbdIvHYuUbXicUKG_S6c21zSo7mug54tp8j8v74MJs8p9PXp5fJ_TQ1jFGRSmMNg8IAs9KIPI8vW-oxwlhQKLjFQuSW2ZjnUEKJ1AqJmZxLTceZlpSPyOWud-3bzx5Dp1YuGKxr3WDbB1VAUQjK8ghe7UDj2xA8ztXau5X2G0VBbV2p6EpFV5G82Ff25QrtL7eXEwG6AzAu9uXQq2AcNgat82g6ZVv3T-ntnz-mdo0zuv7ADYZl2_uoMCiqAlOg3rYn2l4IpATKgPEfknOJUA</recordid><startdate>200806</startdate><enddate>200806</enddate><creator>Parulekar, Manoj V., FRCS</creator><creator>Halliday, William, MD, FRSPC</creator><creator>Brent, Michael, MD, FRCSC</creator><creator>Kong, Kester, MD, FRCPC</creator><creator>Wong, Agnes M.F., MD, PhD, FRCSC</creator><general>Elsevier Inc</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>200806</creationdate><title>Tubular aggregate myopathy associated with retinal degeneration</title><author>Parulekar, Manoj V., FRCS ; Halliday, William, MD, FRSPC ; Brent, Michael, MD, FRCSC ; Kong, Kester, MD, FRCPC ; Wong, Agnes M.F., MD, PhD, FRCSC</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2216-8cdc207c02d8c655dc2dba9e0961073de765d2d5dc50b0be1d68e48f8a194a813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Electroretinography</topic><topic>Female</topic><topic>Fluorescein Angiography</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Muscle, Skeletal - pathology</topic><topic>Myopathies, Structural, Congenital - complications</topic><topic>Myopathies, Structural, Congenital - diagnosis</topic><topic>Night Blindness - etiology</topic><topic>Ophthalmology</topic><topic>retinal degeneration</topic><topic>Retinal Degeneration - complications</topic><topic>Retinal Degeneration - diagnosis</topic><topic>Sarcoplasmic Reticulum - pathology</topic><topic>tubular aggregate myopathy</topic><topic>Vision Disorders - etiology</topic><topic>Visual Field Tests</topic><topic>Visual Fields</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Parulekar, Manoj V., FRCS</creatorcontrib><creatorcontrib>Halliday, William, MD, FRSPC</creatorcontrib><creatorcontrib>Brent, Michael, MD, FRCSC</creatorcontrib><creatorcontrib>Kong, Kester, MD, FRCPC</creatorcontrib><creatorcontrib>Wong, Agnes M.F., MD, PhD, FRCSC</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>Canadian journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Parulekar, Manoj V., FRCS</au><au>Halliday, William, MD, FRSPC</au><au>Brent, Michael, MD, FRCSC</au><au>Kong, Kester, MD, FRCPC</au><au>Wong, Agnes M.F., MD, PhD, FRCSC</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tubular aggregate myopathy associated with retinal degeneration</atitle><jtitle>Canadian journal of ophthalmology</jtitle><addtitle>Can J Ophthalmol</addtitle><date>2008-06</date><risdate>2008</risdate><volume>43</volume><issue>3</issue><spage>361</spage><epage>363</epage><pages>361-363</pages><issn>0008-4182</issn><eissn>1715-3360</eissn><abstract>Abstract Case report: We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. Comments: Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in skeletal muscles only. The abnormal functioning of the smooth muscles of the pupillary dilator, together with retinal degeneration in our patient, suggests that tubular aggregates may represent a more generalized disequilibrium of intracellular calcium homeostasis that may not be confined to skeletal muscles.</abstract><cop>England</cop><pub>Elsevier Inc</pub><pmid>18443606</pmid><doi>10.3129/i08-038</doi><tpages>3</tpages></addata></record> |
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| ispartof | Canadian journal of ophthalmology, 2008-06, Vol.43 (3), p.361-363 |
| issn | 0008-4182 1715-3360 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adult Electroretinography Female Fluorescein Angiography Humans Internal Medicine Muscle, Skeletal - pathology Myopathies, Structural, Congenital - complications Myopathies, Structural, Congenital - diagnosis Night Blindness - etiology Ophthalmology retinal degeneration Retinal Degeneration - complications Retinal Degeneration - diagnosis Sarcoplasmic Reticulum - pathology tubular aggregate myopathy Vision Disorders - etiology Visual Field Tests Visual Fields |
| title | Tubular aggregate myopathy associated with retinal degeneration |
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