Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy : The first Japanese patient
We report here findings in a 51-year-old Japanese man with non-insulin-dependent diabetes mellitus who complained of exercise-induced cramps. Muscle biopsy showed scattered regenerating fibers, small angular fibers and increased PAS positive particles. Electron microscopic examination revealed an ab...
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| Veröffentlicht in: | Internal medicine (Tokyo, 1992) 1992), 1996-10, Vol.35 (10), p.799-802 |
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| container_title | Internal medicine (Tokyo, 1992) |
| container_volume | 35 |
| creator | KAWASHIMA, N MISHIMA, M SHINDO, R HIRANO, M KUWABARA, S SAITOH, H MIYAZAKI, T |
| description | We report here findings in a 51-year-old Japanese man with non-insulin-dependent diabetes mellitus who complained of exercise-induced cramps. Muscle biopsy showed scattered regenerating fibers, small angular fibers and increased PAS positive particles. Electron microscopic examination revealed an abnormal accumulation of glycogen particles in subsarcolenmmal areas and between myofibrils while chemical studies showed an increased glycogen concentration and decreased phosphoglycerate mutase (PGAM), 46.9% of the normal mean value. Thus, partial PGAM deficiency, insulin resistance and mild diabetic sensory-motor polyneuropathy can induce severe cramps. |
| doi_str_mv | 10.2169/internalmedicine.35.799 |
| format | Article |
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Muscle biopsy showed scattered regenerating fibers, small angular fibers and increased PAS positive particles. Electron microscopic examination revealed an abnormal accumulation of glycogen particles in subsarcolenmmal areas and between myofibrils while chemical studies showed an increased glycogen concentration and decreased phosphoglycerate mutase (PGAM), 46.9% of the normal mean value. Thus, partial PGAM deficiency, insulin resistance and mild diabetic sensory-motor polyneuropathy can induce severe cramps.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.35.799</identifier><identifier>PMID: 8933190</identifier><language>eng</language><publisher>Tokyo: Japanese Society of Internal Medicine</publisher><subject>Associated diseases and complications ; Biological and medical sciences ; Biopsy ; Chromosomes, Human, Pair 7 ; Diabetes. Impaired glucose tolerance ; Diabetic Neuropathies - complications ; Diabetic Neuropathies - enzymology ; Diabetic Neuropathies - pathology ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Exercise Test - adverse effects ; Glycogen - metabolism ; Humans ; Japan ; Male ; Medical sciences ; Middle Aged ; Muscle Cramp - etiology ; Muscle Cramp - metabolism ; Muscle Cramp - pathology ; Muscle, Skeletal - diagnostic imaging ; Muscle, Skeletal - metabolism ; Muscle, Skeletal - ultrastructure ; Myofibrils - metabolism ; Myofibrils - ultrastructure ; Phosphoglycerate Mutase - deficiency ; Phosphoglycerate Mutase - genetics ; Point Mutation ; Tomography, X-Ray Computed</subject><ispartof>Internal medicine (Tokyo, 1992), 1996-10, Vol.35 (10), p.799-802</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c452t-ab9f7b5a4207e6472306cbbb05014bebde43b3c91a0198ca447e85edf155af093</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,27911,27912</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2545088$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8933190$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KAWASHIMA, N</creatorcontrib><creatorcontrib>MISHIMA, M</creatorcontrib><creatorcontrib>SHINDO, R</creatorcontrib><creatorcontrib>HIRANO, M</creatorcontrib><creatorcontrib>KUWABARA, S</creatorcontrib><creatorcontrib>SAITOH, H</creatorcontrib><creatorcontrib>MIYAZAKI, T</creatorcontrib><title>Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy : The first Japanese patient</title><title>Internal medicine (Tokyo, 1992)</title><addtitle>Intern Med</addtitle><description>We report here findings in a 51-year-old Japanese man with non-insulin-dependent diabetes mellitus who complained of exercise-induced cramps. Muscle biopsy showed scattered regenerating fibers, small angular fibers and increased PAS positive particles. Electron microscopic examination revealed an abnormal accumulation of glycogen particles in subsarcolenmmal areas and between myofibrils while chemical studies showed an increased glycogen concentration and decreased phosphoglycerate mutase (PGAM), 46.9% of the normal mean value. Thus, partial PGAM deficiency, insulin resistance and mild diabetic sensory-motor polyneuropathy can induce severe cramps.</description><subject>Associated diseases and complications</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>Diabetic Neuropathies - complications</subject><subject>Diabetic Neuropathies - enzymology</subject><subject>Diabetic Neuropathies - pathology</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Exercise Test - adverse effects</subject><subject>Glycogen - metabolism</subject><subject>Humans</subject><subject>Japan</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscle Cramp - etiology</subject><subject>Muscle Cramp - metabolism</subject><subject>Muscle Cramp - pathology</subject><subject>Muscle, Skeletal - diagnostic imaging</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - ultrastructure</subject><subject>Myofibrils - metabolism</subject><subject>Myofibrils - ultrastructure</subject><subject>Phosphoglycerate Mutase - deficiency</subject><subject>Phosphoglycerate Mutase - genetics</subject><subject>Point Mutation</subject><subject>Tomography, X-Ray Computed</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdUE1P3DAQtSoq2AI_ocIHxC1bO7bXMTeEoLRCag_0HI2dMWuUTYLtCOXf18CKA4eZObyPmXmEnHG2rvnG_AhDxjhAv8MuuDDgWqi1NuYLWXEhTaVroQ7IihneVHVpR-RbSk-MiUab-pAcNkYIbtiKPP6FmAP0tENfjHBwCx09nbZjKvXYLw4jZKS7OUNC-hLylnYBLObg6DT2y4BzHCfI24Ve0octUh9iyvQ3TDBgURSouOYT8tVDn_B0P4_Jv9ubh-u76v7Pz1_XV_eVk6rOFVjjtVUga6ZxI8sbbOOstUwxLi3aDqWwwhkOjJvGgZQaG4Wd50qBZ0Yck4t33ymOzzOm3O5Cctj35ZpxTq1ulFIb80rU70QXx5Qi-naKYQdxaTlrXyNuP0fcCtXqN-X3_YrZFuxDt8-04Od7HJKD3kcYXEgftFpJxZpG_Ae2Woxu</recordid><startdate>19961001</startdate><enddate>19961001</enddate><creator>KAWASHIMA, N</creator><creator>MISHIMA, M</creator><creator>SHINDO, R</creator><creator>HIRANO, M</creator><creator>KUWABARA, S</creator><creator>SAITOH, H</creator><creator>MIYAZAKI, T</creator><general>Japanese Society of Internal Medicine</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>7X8</scope></search><sort><creationdate>19961001</creationdate><title>Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy : The first Japanese patient</title><author>KAWASHIMA, N ; MISHIMA, M ; SHINDO, R ; HIRANO, M ; KUWABARA, S ; SAITOH, H ; MIYAZAKI, T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c452t-ab9f7b5a4207e6472306cbbb05014bebde43b3c91a0198ca447e85edf155af093</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Associated diseases and complications</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Diabetes. Impaired glucose tolerance</topic><topic>Diabetic Neuropathies - complications</topic><topic>Diabetic Neuropathies - enzymology</topic><topic>Diabetic Neuropathies - pathology</topic><topic>Endocrine pancreas. Apud cells (diseases)</topic><topic>Endocrinopathies</topic><topic>Exercise Test - adverse effects</topic><topic>Glycogen - metabolism</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscle Cramp - etiology</topic><topic>Muscle Cramp - metabolism</topic><topic>Muscle Cramp - pathology</topic><topic>Muscle, Skeletal - diagnostic imaging</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Muscle, Skeletal - ultrastructure</topic><topic>Myofibrils - metabolism</topic><topic>Myofibrils - ultrastructure</topic><topic>Phosphoglycerate Mutase - deficiency</topic><topic>Phosphoglycerate Mutase - genetics</topic><topic>Point Mutation</topic><topic>Tomography, X-Ray Computed</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KAWASHIMA, N</creatorcontrib><creatorcontrib>MISHIMA, M</creatorcontrib><creatorcontrib>SHINDO, R</creatorcontrib><creatorcontrib>HIRANO, M</creatorcontrib><creatorcontrib>KUWABARA, S</creatorcontrib><creatorcontrib>SAITOH, H</creatorcontrib><creatorcontrib>MIYAZAKI, T</creatorcontrib><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>Internal medicine (Tokyo, 1992)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KAWASHIMA, N</au><au>MISHIMA, M</au><au>SHINDO, R</au><au>HIRANO, M</au><au>KUWABARA, S</au><au>SAITOH, H</au><au>MIYAZAKI, T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy : The first Japanese patient</atitle><jtitle>Internal medicine (Tokyo, 1992)</jtitle><addtitle>Intern Med</addtitle><date>1996-10-01</date><risdate>1996</risdate><volume>35</volume><issue>10</issue><spage>799</spage><epage>802</epage><pages>799-802</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>We report here findings in a 51-year-old Japanese man with non-insulin-dependent diabetes mellitus who complained of exercise-induced cramps. Muscle biopsy showed scattered regenerating fibers, small angular fibers and increased PAS positive particles. Electron microscopic examination revealed an abnormal accumulation of glycogen particles in subsarcolenmmal areas and between myofibrils while chemical studies showed an increased glycogen concentration and decreased phosphoglycerate mutase (PGAM), 46.9% of the normal mean value. Thus, partial PGAM deficiency, insulin resistance and mild diabetic sensory-motor polyneuropathy can induce severe cramps.</abstract><cop>Tokyo</cop><pub>Japanese Society of Internal Medicine</pub><pmid>8933190</pmid><doi>10.2169/internalmedicine.35.799</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0918-2918 |
| ispartof | Internal medicine (Tokyo, 1992), 1996-10, Vol.35 (10), p.799-802 |
| issn | 0918-2918 1349-7235 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; J-STAGE (Japan Science & Technology Information Aggregator, Electronic) Freely Available Titles - Japanese |
| subjects | Associated diseases and complications Biological and medical sciences Biopsy Chromosomes, Human, Pair 7 Diabetes. Impaired glucose tolerance Diabetic Neuropathies - complications Diabetic Neuropathies - enzymology Diabetic Neuropathies - pathology Endocrine pancreas. Apud cells (diseases) Endocrinopathies Exercise Test - adverse effects Glycogen - metabolism Humans Japan Male Medical sciences Middle Aged Muscle Cramp - etiology Muscle Cramp - metabolism Muscle Cramp - pathology Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - metabolism Muscle, Skeletal - ultrastructure Myofibrils - metabolism Myofibrils - ultrastructure Phosphoglycerate Mutase - deficiency Phosphoglycerate Mutase - genetics Point Mutation Tomography, X-Ray Computed |
| title | Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy : The first Japanese patient |
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