Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
Charcot-Marie-Tooth disease (CMT) 1 , 2 is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500, 3 and is one of the most prevalent autosomal dominant diseases 4 . It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy...
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| Veröffentlicht in: | The New England journal of medicine 1993-07, Vol.329 (2), p.96-101 |
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| container_title | The New England journal of medicine |
| container_volume | 329 |
| creator | Roa, Benjamin B Garcia, Carlos A Suter, Ueli Kulpa, Deanna A Wise, Carol A Mueller, Jane Welcher, Andrew A Snipes, G. Jackson Shooter, Eric M Patel, Pragna I Lupski, James R |
| description | Charcot-Marie-Tooth disease (CMT)
1
,
2
is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500,
3
and is one of the most prevalent autosomal dominant diseases
4
. It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy of the distal muscles, predominantly those innervated by the peroneal nerve
4
,
5
. Progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus deformity, clawhand, and stork-leg appearance, usually begin in the second or third decade of life
4
,
5
. Enlarged greater auricular nerves may be . . . |
| doi_str_mv | 10.1056/NEJM199307083290205 |
| format | Article |
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1
,
2
is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500,
3
and is one of the most prevalent autosomal dominant diseases
4
. It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy of the distal muscles, predominantly those innervated by the peroneal nerve
4
,
5
. Progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus deformity, clawhand, and stork-leg appearance, usually begin in the second or third decade of life
4
,
5
. Enlarged greater auricular nerves may be . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM199307083290205</identifier><identifier>PMID: 8510709</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>Amino Acid Sequence ; Amino acids ; Base Sequence ; Biological and medical sciences ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Child ; Chromosome 17 ; Chromosomes, Human, Pair 17 ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Deoxyribonucleic acid ; DNA ; DNA, Antisense ; Gene Amplification ; Gene dosage ; Humans ; Male ; Medical sciences ; Medicine ; Molecular Sequence Data ; Multigene Family ; Mutation ; Myelin ; Neurology ; Neurosciences ; Nucleic Acid Heteroduplexes ; Pedigree ; Peripheral myelin protein 22 ; Peripheral neuropathy ; Point Mutation ; Polymerase Chain Reaction ; Sequence Homology, Amino Acid ; Serine ; Velocity</subject><ispartof>The New England journal of medicine, 1993-07, Vol.329 (2), p.96-101</ispartof><rights>Copyright © 1993 Massachusetts Medical Society. All rights reserved.</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-5d247ff9ad8d7c038d26c5cd88bd740e92cd991186e8d20cba675a60fe5ddb643</citedby><cites>FETCH-LOGICAL-c474t-5d247ff9ad8d7c038d26c5cd88bd740e92cd991186e8d20cba675a60fe5ddb643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM199307083290205$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM199307083290205$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4811009$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8510709$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roa, Benjamin B</creatorcontrib><creatorcontrib>Garcia, Carlos A</creatorcontrib><creatorcontrib>Suter, Ueli</creatorcontrib><creatorcontrib>Kulpa, Deanna A</creatorcontrib><creatorcontrib>Wise, Carol A</creatorcontrib><creatorcontrib>Mueller, Jane</creatorcontrib><creatorcontrib>Welcher, Andrew A</creatorcontrib><creatorcontrib>Snipes, G. Jackson</creatorcontrib><creatorcontrib>Shooter, Eric M</creatorcontrib><creatorcontrib>Patel, Pragna I</creatorcontrib><creatorcontrib>Lupski, James R</creatorcontrib><title>Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Charcot-Marie-Tooth disease (CMT)
1
,
2
is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500,
3
and is one of the most prevalent autosomal dominant diseases
4
. It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy of the distal muscles, predominantly those innervated by the peroneal nerve
4
,
5
. Progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus deformity, clawhand, and stork-leg appearance, usually begin in the second or third decade of life
4
,
5
. Enlarged greater auricular nerves may be . . .</description><subject>Amino Acid Sequence</subject><subject>Amino acids</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth disease</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Child</subject><subject>Chromosome 17</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA, Antisense</subject><subject>Gene Amplification</subject><subject>Gene dosage</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Mutation</subject><subject>Myelin</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Nucleic Acid Heteroduplexes</subject><subject>Pedigree</subject><subject>Peripheral myelin protein 22</subject><subject>Peripheral neuropathy</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Sequence Homology, Amino Acid</subject><subject>Serine</subject><subject>Velocity</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kU-LFDEQxYMo6-zqJxAhoOxFoknn_3EY11XZ0QHHc5NJ0kyG6WRM0sh-e6M97EHEutTh_V7VowqAFwS_JZiLd19uPq-J1hRLrGincYf5I7AgnFLEGBaPwQLjTiEmNX0KLks54FaE6QtwoThpLr0Aw2pvsk0VrU0OHm1Tqnv4PhRviofb-5OHZAkRgstSkg2mhhThz9AYA7-dUqwm-jQVuEkhVrie6kyECOvew81603Xw1kf_DDwZzLH45-d-Bb5_uNmuPqK7r7efVss7ZJlkFXHXMTkM2jjlpMVUuU5Ybp1SOycZ9rqzTmtClPBNwnZnhORG4MFz53aC0StwPc895fRj8qX2YyjWH49zzl5yKYVkqoGv_gIPacqxZeuJVlRwSTVtFJ0pm1Mp2Q_9KYfR5Pue4P73D_p__KC5Xp5nT7vRuwfP-ehNf33WTbHmOGQTbSgPGFOE4D_Ymxkbx9JHfxj_u_QX5R6YbQ</recordid><startdate>19930708</startdate><enddate>19930708</enddate><creator>Roa, Benjamin B</creator><creator>Garcia, Carlos A</creator><creator>Suter, Ueli</creator><creator>Kulpa, Deanna A</creator><creator>Wise, Carol A</creator><creator>Mueller, Jane</creator><creator>Welcher, Andrew A</creator><creator>Snipes, G. Jackson</creator><creator>Shooter, Eric M</creator><creator>Patel, Pragna I</creator><creator>Lupski, James R</creator><general>Massachusetts Medical Society</general><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>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>19930708</creationdate><title>Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene</title><author>Roa, Benjamin B ; Garcia, Carlos A ; Suter, Ueli ; Kulpa, Deanna A ; Wise, Carol A ; Mueller, Jane ; Welcher, Andrew A ; Snipes, G. 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Prion diseases</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA, Antisense</topic><topic>Gene Amplification</topic><topic>Gene dosage</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Mutation</topic><topic>Myelin</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Nucleic Acid Heteroduplexes</topic><topic>Pedigree</topic><topic>Peripheral myelin protein 22</topic><topic>Peripheral neuropathy</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Sequence Homology, Amino Acid</topic><topic>Serine</topic><topic>Velocity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roa, Benjamin B</creatorcontrib><creatorcontrib>Garcia, Carlos A</creatorcontrib><creatorcontrib>Suter, Ueli</creatorcontrib><creatorcontrib>Kulpa, Deanna A</creatorcontrib><creatorcontrib>Wise, Carol A</creatorcontrib><creatorcontrib>Mueller, Jane</creatorcontrib><creatorcontrib>Welcher, Andrew A</creatorcontrib><creatorcontrib>Snipes, G. 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Jackson</au><au>Shooter, Eric M</au><au>Patel, Pragna I</au><au>Lupski, James R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1993-07-08</date><risdate>1993</risdate><volume>329</volume><issue>2</issue><spage>96</spage><epage>101</epage><pages>96-101</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>Charcot-Marie-Tooth disease (CMT)
1
,
2
is the most common inherited peripheral neuropathy, with a frequency of 1 in 2500,
3
and is one of the most prevalent autosomal dominant diseases
4
. It is a clinically heterogeneous disorder of the peripheral nerves characterized by slowly progressive atrophy of the distal muscles, predominantly those innervated by the peroneal nerve
4
,
5
. Progressive weakness of varying intensity and atrophy of the muscles of the feet, hands, and legs, leading to pes cavus deformity, clawhand, and stork-leg appearance, usually begin in the second or third decade of life
4
,
5
. Enlarged greater auricular nerves may be . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>8510709</pmid><doi>10.1056/NEJM199307083290205</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-4793 |
| ispartof | The New England journal of medicine, 1993-07, Vol.329 (2), p.96-101 |
| issn | 0028-4793 1533-4406 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_75776748 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; New England Journal of Medicine |
| subjects | Amino Acid Sequence Amino acids Base Sequence Biological and medical sciences Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - genetics Child Chromosome 17 Chromosomes, Human, Pair 17 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Deoxyribonucleic acid DNA DNA, Antisense Gene Amplification Gene dosage Humans Male Medical sciences Medicine Molecular Sequence Data Multigene Family Mutation Myelin Neurology Neurosciences Nucleic Acid Heteroduplexes Pedigree Peripheral myelin protein 22 Peripheral neuropathy Point Mutation Polymerase Chain Reaction Sequence Homology, Amino Acid Serine Velocity |
| title | Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene |
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