Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exercise‐induced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease‐causing m...
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| Veröffentlicht in: | Muscle & nerve 1999-07, Vol.22 (7), p.949-951 |
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| creator | Vladutiu, Georgirene D. |
| description | Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exercise‐induced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease‐causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II activity to citrate synthase activity in the skeletal muscle of patients presumed to have CPT II deficiency is important for predicting whether the patient has one, two, or no mutations in the CPT2 gene. This finding will assist in the future correlation of the phenotype with the genotype and in identifying manifesting heterozygotes. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 949–951, 1999 |
| doi_str_mv | 10.1002/(SICI)1097-4598(199907)22:7<949::AID-MUS23>3.0.CO;2-I |
| format | Article |
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Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease‐causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II activity to citrate synthase activity in the skeletal muscle of patients presumed to have CPT II deficiency is important for predicting whether the patient has one, two, or no mutations in the CPT2 gene. This finding will assist in the future correlation of the phenotype with the genotype and in identifying manifesting heterozygotes. © 1999 John Wiley & Sons, Inc. 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Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease‐causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II activity to citrate synthase activity in the skeletal muscle of patients presumed to have CPT II deficiency is important for predicting whether the patient has one, two, or no mutations in the CPT2 gene. This finding will assist in the future correlation of the phenotype with the genotype and in identifying manifesting heterozygotes. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 949–951, 1999</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Carnitine O-Palmitoyltransferase - deficiency</subject><subject>Citrate (si)-Synthase - metabolism</subject><subject>disease-causing mutations</subject><subject>Errors of metabolism</subject><subject>exercise intolerance</subject><subject>Heterozygote</subject><subject>heterozygotes</subject><subject>Homozygote</subject><subject>Humans</subject><subject>lipid myopathy</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Muscle, Skeletal - enzymology</subject><subject>Muscular Diseases - enzymology</subject><subject>Muscular Diseases - genetics</subject><subject>Mutation</subject><subject>myoglobinuria</subject><subject>Retrospective Studies</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkF2L00AYRoMobnf1L0guRHYvUud7MlUX1qi7gWrBdevizct0MsHRSVJnUrT_3tSUKih4NTA87-FwkuQFRlOMEHl6el0W5RlGSmaMq_wUK6WQPCNkJp8rpmazi_JV9vbmmtBzOkXTYvGMZOWdZHK4uJtMEGZ5Jqi6PUqOY_yCEMK5kPeTI4yoygnOJ8nypevMZ9s4o32q2yptOm_NxuuQmi4E63Xvujamrk2NDq3rXWvTtfaN67ut74NuY22DjjYty7SytTPOtmb7ILlXax_tw_17kty8ef2huMrmi8uyuJhnhlFMM8WpsCtKTC05MpibFSeiUghLJStrGRZVTjFhmGlBLeE117SqCRdcUGkQoifJk5G7Dt23jY09NC4a671ubbeJIFSeI8kYPQiY0MUYbA3r4BodtoAR7IID7ILDLh_s8sEYHAgBCUNwgCE4_AoOFBAUCyBQDtxHe4HNqrHVH9Sx8DB4vB_oODSuh2LGxd-7nFPM-DBbjrPvztvtX3L_cfuX2vgxgLMR7GJvfxzAOnwFIank8PHdJdBP6Pb91XwOS_oTSHq37Q</recordid><startdate>199907</startdate><enddate>199907</enddate><creator>Vladutiu, Georgirene D.</creator><general>John Wiley & Sons, Inc</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>199907</creationdate><title>Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency</title><author>Vladutiu, Georgirene D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4313-9536eb32cf750c15cb526d901797dee416d8312414a63e25f5a3df2565637c003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Carnitine O-Palmitoyltransferase - deficiency</topic><topic>Citrate (si)-Synthase - metabolism</topic><topic>disease-causing mutations</topic><topic>Errors of metabolism</topic><topic>exercise intolerance</topic><topic>Heterozygote</topic><topic>heterozygotes</topic><topic>Homozygote</topic><topic>Humans</topic><topic>lipid myopathy</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Muscle, Skeletal - enzymology</topic><topic>Muscular Diseases - enzymology</topic><topic>Muscular Diseases - genetics</topic><topic>Mutation</topic><topic>myoglobinuria</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vladutiu, Georgirene D.</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>Vladutiu, Georgirene D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>1999-07</date><risdate>1999</risdate><volume>22</volume><issue>7</issue><spage>949</spage><epage>951</epage><pages>949-951</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exercise‐induced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease‐causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II activity to citrate synthase activity in the skeletal muscle of patients presumed to have CPT II deficiency is important for predicting whether the patient has one, two, or no mutations in the CPT2 gene. This finding will assist in the future correlation of the phenotype with the genotype and in identifying manifesting heterozygotes. © 1999 John Wiley & Sons, Inc. Muscle Nerve 22: 949–951, 1999</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>10398218</pmid><doi>10.1002/(SICI)1097-4598(199907)22:7<949::AID-MUS23>3.0.CO;2-I</doi><tpages>3</tpages></addata></record> |
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| ispartof | Muscle & nerve, 1999-07, Vol.22 (7), p.949-951 |
| issn | 0148-639X 1097-4598 |
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| subjects | Adult Biological and medical sciences Carnitine O-Palmitoyltransferase - deficiency Citrate (si)-Synthase - metabolism disease-causing mutations Errors of metabolism exercise intolerance Heterozygote heterozygotes Homozygote Humans lipid myopathy Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Muscle, Skeletal - enzymology Muscular Diseases - enzymology Muscular Diseases - genetics Mutation myoglobinuria Retrospective Studies |
| title | Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency |
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