Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor
A 5.5‐year‐old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 27 months. Immune deposits were absent from the end...
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| Veröffentlicht in: | Muscle & nerve 1993-12, Vol.16 (12), p.1284-1292 |
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| creator | Engel, Andrew G. Nagel, Alexandre Walls, Timothy J. Harper, C. Michel Waisburg, Hector A. |
| description | A 5.5‐year‐old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 27 months. Immune deposits were absent from the endplates. On electron microscopy, most postsynaptic regions appeared normal, but the density of AChR on the junctional folds was diffusely reduced. In vitro microelectrode studies revealed that the number of transmitter quanta released by nerve impulse was normal. The amplitude of miniature of endplate potentials and currents was abnormally low. A study of the kinetic properties of AChR by analysis of acetylcholine‐induced current noise demonstrated a significant decrease in mean channel open‐time; the mean channel conductance was normal. The safety margin of neuromuscular transmission in this disorder is likely to be compromised by the deficiency and abnormal kinetic properties of AChR. The findings are unique among those patients with congenital AChR deficiency described to date. © 1993 John Wiley & Sons, Inc. |
| doi_str_mv | 10.1002/mus.880161204 |
| format | Article |
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Deficiency and short open-time of the acetylcholine receptor</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Engel, Andrew G. ; Nagel, Alexandre ; Walls, Timothy J. ; Harper, C. Michel ; Waisburg, Hector A.</creator><creatorcontrib>Engel, Andrew G. ; Nagel, Alexandre ; Walls, Timothy J. ; Harper, C. Michel ; Waisburg, Hector A.</creatorcontrib><description>A 5.5‐year‐old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 27 months. Immune deposits were absent from the endplates. On electron microscopy, most postsynaptic regions appeared normal, but the density of AChR on the junctional folds was diffusely reduced. In vitro microelectrode studies revealed that the number of transmitter quanta released by nerve impulse was normal. The amplitude of miniature of endplate potentials and currents was abnormally low. A study of the kinetic properties of AChR by analysis of acetylcholine‐induced current noise demonstrated a significant decrease in mean channel open‐time; the mean channel conductance was normal. The safety margin of neuromuscular transmission in this disorder is likely to be compromised by the deficiency and abnormal kinetic properties of AChR. The findings are unique among those patients with congenital AChR deficiency described to date. © 1993 John Wiley & Sons, Inc.</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.880161204</identifier><identifier>PMID: 8232383</identifier><identifier>CODEN: MUNEDE</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>acetylcholine receptor ; Acetylcholinesterase - metabolism ; Biological and medical sciences ; Child, Preschool ; congenital myasthenic syndrome ; Diseases of striated muscles. Neuromuscular diseases ; Female ; Humans ; Medical sciences ; Membrane Potentials - drug effects ; Microelectrodes ; Motor Endplate - drug effects ; Motor Endplate - physiology ; Motor Endplate - ultrastructure ; Myasthenia Gravis - congenital ; Myasthenia Gravis - pathology ; Myasthenia Gravis - physiopathology ; Nerve Endings - physiology ; Nerve Endings - ultrastructure ; Neurology ; neuromuscular junction ; noise analysis ; Receptors, Cholinergic - metabolism ; Synapses - drug effects ; Synapses - ultrastructure ; Syndrome ; Tubocurarine - pharmacology</subject><ispartof>Muscle & nerve, 1993-12, Vol.16 (12), p.1284-1292</ispartof><rights>Copyright © 1993 John Wiley & Sons, Inc.</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3844-bd913eab41035e899111580a69d3e5a536d5ec4dc949392fd0cfe1d457bd73b13</citedby><cites>FETCH-LOGICAL-c3844-bd913eab41035e899111580a69d3e5a536d5ec4dc949392fd0cfe1d457bd73b13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.880161204$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.880161204$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3854815$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8232383$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Engel, Andrew G.</creatorcontrib><creatorcontrib>Nagel, Alexandre</creatorcontrib><creatorcontrib>Walls, Timothy J.</creatorcontrib><creatorcontrib>Harper, C. Michel</creatorcontrib><creatorcontrib>Waisburg, Hector A.</creatorcontrib><title>Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>A 5.5‐year‐old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 27 months. Immune deposits were absent from the endplates. On electron microscopy, most postsynaptic regions appeared normal, but the density of AChR on the junctional folds was diffusely reduced. In vitro microelectrode studies revealed that the number of transmitter quanta released by nerve impulse was normal. The amplitude of miniature of endplate potentials and currents was abnormally low. A study of the kinetic properties of AChR by analysis of acetylcholine‐induced current noise demonstrated a significant decrease in mean channel open‐time; the mean channel conductance was normal. The safety margin of neuromuscular transmission in this disorder is likely to be compromised by the deficiency and abnormal kinetic properties of AChR. The findings are unique among those patients with congenital AChR deficiency described to date. © 1993 John Wiley & Sons, Inc.</description><subject>acetylcholine receptor</subject><subject>Acetylcholinesterase - metabolism</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>congenital myasthenic syndrome</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Female</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Membrane Potentials - drug effects</subject><subject>Microelectrodes</subject><subject>Motor Endplate - drug effects</subject><subject>Motor Endplate - physiology</subject><subject>Motor Endplate - ultrastructure</subject><subject>Myasthenia Gravis - congenital</subject><subject>Myasthenia Gravis - pathology</subject><subject>Myasthenia Gravis - physiopathology</subject><subject>Nerve Endings - physiology</subject><subject>Nerve Endings - ultrastructure</subject><subject>Neurology</subject><subject>neuromuscular junction</subject><subject>noise analysis</subject><subject>Receptors, Cholinergic - metabolism</subject><subject>Synapses - drug effects</subject><subject>Synapses - ultrastructure</subject><subject>Syndrome</subject><subject>Tubocurarine - pharmacology</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM1v1DAQxa2KqiylR45IPiBu2dqxndjc0AJL1a8DVCAuxrEnrCGxFzurNv89qTZaceppNJrfe_P0EHpFyZISUp73u7yUktCKloQfoQUlqi64UPIZWhDKZVEx9f05epHzb0IIlVV9gk5kyUom2QL9XMXwC4IfTIf70eRhMy0W5zG4FHvI7_DFEn-A1lsPwY7YBIfzJqYBxy2EYvA94NjiSYaNhWHs7CZ2PgBOYGE7xPQSHbemy3A2z1N09-nj19Xn4up2fbF6f1VYJjkvGqcoA9NwSpgAqRSlVEhiKuUYCCNY5QRY7qziiqmydcS2QB0XdeNq1lB2it7ufbcp_t1BHnTvs4WuMwHiLuu6IoJJqSaw2IM2xZwTtHqbfG_SqCnRj43qqVF9aHTiX8_Gu6YHd6DnCqf7m_lusjVdm0ywPh8wJgWXVExYvcfufQfj0z_19d2X_wPMgX0e4OGgNOmPrmpWC_3tZq1Xa_mD8epSS_YPWWmeTA</recordid><startdate>199312</startdate><enddate>199312</enddate><creator>Engel, Andrew G.</creator><creator>Nagel, Alexandre</creator><creator>Walls, Timothy J.</creator><creator>Harper, C. Michel</creator><creator>Waisburg, Hector 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>7X8</scope></search><sort><creationdate>199312</creationdate><title>Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor</title><author>Engel, Andrew G. ; Nagel, Alexandre ; Walls, Timothy J. ; Harper, C. Michel ; Waisburg, Hector A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3844-bd913eab41035e899111580a69d3e5a536d5ec4dc949392fd0cfe1d457bd73b13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>acetylcholine receptor</topic><topic>Acetylcholinesterase - metabolism</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>congenital myasthenic syndrome</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Female</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Membrane Potentials - drug effects</topic><topic>Microelectrodes</topic><topic>Motor Endplate - drug effects</topic><topic>Motor Endplate - physiology</topic><topic>Motor Endplate - ultrastructure</topic><topic>Myasthenia Gravis - congenital</topic><topic>Myasthenia Gravis - pathology</topic><topic>Myasthenia Gravis - physiopathology</topic><topic>Nerve Endings - physiology</topic><topic>Nerve Endings - ultrastructure</topic><topic>Neurology</topic><topic>neuromuscular junction</topic><topic>noise analysis</topic><topic>Receptors, Cholinergic - metabolism</topic><topic>Synapses - drug effects</topic><topic>Synapses - ultrastructure</topic><topic>Syndrome</topic><topic>Tubocurarine - pharmacology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Engel, Andrew G.</creatorcontrib><creatorcontrib>Nagel, Alexandre</creatorcontrib><creatorcontrib>Walls, Timothy J.</creatorcontrib><creatorcontrib>Harper, C. Michel</creatorcontrib><creatorcontrib>Waisburg, Hector 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>MEDLINE - Academic</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Engel, Andrew G.</au><au>Nagel, Alexandre</au><au>Walls, Timothy J.</au><au>Harper, C. Michel</au><au>Waisburg, Hector A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>1993-12</date><risdate>1993</risdate><volume>16</volume><issue>12</issue><spage>1284</spage><epage>1292</epage><pages>1284-1292</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>A 5.5‐year‐old girl had myasthenic symptoms since birth. Tests for antiacetylcholine receptor (AChR) antibodies were negative. To investigate the character of the neuromuscular transmission defect, an intercostal muscle specimen was obtained at age 27 months. Immune deposits were absent from the endplates. On electron microscopy, most postsynaptic regions appeared normal, but the density of AChR on the junctional folds was diffusely reduced. In vitro microelectrode studies revealed that the number of transmitter quanta released by nerve impulse was normal. The amplitude of miniature of endplate potentials and currents was abnormally low. A study of the kinetic properties of AChR by analysis of acetylcholine‐induced current noise demonstrated a significant decrease in mean channel open‐time; the mean channel conductance was normal. The safety margin of neuromuscular transmission in this disorder is likely to be compromised by the deficiency and abnormal kinetic properties of AChR. The findings are unique among those patients with congenital AChR deficiency described to date. © 1993 John Wiley & Sons, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8232383</pmid><doi>10.1002/mus.880161204</doi><tpages>9</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | acetylcholine receptor Acetylcholinesterase - metabolism Biological and medical sciences Child, Preschool congenital myasthenic syndrome Diseases of striated muscles. Neuromuscular diseases Female Humans Medical sciences Membrane Potentials - drug effects Microelectrodes Motor Endplate - drug effects Motor Endplate - physiology Motor Endplate - ultrastructure Myasthenia Gravis - congenital Myasthenia Gravis - pathology Myasthenia Gravis - physiopathology Nerve Endings - physiology Nerve Endings - ultrastructure Neurology neuromuscular junction noise analysis Receptors, Cholinergic - metabolism Synapses - drug effects Synapses - ultrastructure Syndrome Tubocurarine - pharmacology |
| title | Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor |
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