{"id":"https://openalex.org/W2016369795","doi":"https://doi.org/10.1055/s-2002-32374","title":"Alpha-Sarcoglycan Deficiency Featuring Exercise Intolerance and Myoglobinuria","display_name":"Alpha-Sarcoglycan Deficiency Featuring Exercise Intolerance and Myoglobinuria","publication_year":2002,"publication_date":"2002-04-01","ids":{"openalex":"https://openalex.org/W2016369795","doi":"https://doi.org/10.1055/s-2002-32374","mag":"2016369795","pmid":"https://pubmed.ncbi.nlm.nih.gov/12075495"},"language":"en","primary_location":{"id":"doi:10.1055/s-2002-32374","doi":"https://doi.org/10.1055/s-2002-32374","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2002-32374","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025252739","display_name":"Tiziana Mongini","orcid":"https://orcid.org/0000-0003-4061-4261","observed_orcids":["https://orcid.org/0000-0003-4061-4261"]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"T. Mongini","raw_affiliation_strings":["P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Italy. tmongini@molinette.piemonte.it","P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Italy. tmongini@molinette.piemonte.it","institution_ids":["https://openalex.org/I55143463"]},{"raw_affiliation_string":"P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014274199","display_name":"Carlo Doriguzzi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210095275","display_name":"Ospedale Civile Edoardo Agnelli","ror":"https://ror.org/00x8ee082","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210095275"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C. Doriguzzi","raw_affiliation_strings":["E Agnelli Hospital, Pinerolo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"E Agnelli Hospital, Pinerolo, Italy","institution_ids":["https://openalex.org/I4210095275"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056071740","display_name":"Ivana Bosone","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"I. Bosone","raw_affiliation_strings":["P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113496265","display_name":"Loredana Chiado'-Piat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Chiad\u00f2-Piat","raw_affiliation_strings":["P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086088688","display_name":"Eric P. Hoffman","orcid":"https://orcid.org/0000-0001-6470-5139","observed_orcids":["https://orcid.org/0000-0001-6470-5139","https://orcid.org/0000-0002-7172-6592"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. P. Hoffman","raw_affiliation_strings":["Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006523160","display_name":"L. Palmucci","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L. Palmucci","raw_affiliation_strings":["P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P Peirolo Centre for Neuromuscular Diseases, Department of Neurosciences, University of Turin, Turin, Italy","institution_ids":["https://openalex.org/I55143463"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.5793,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.62555573,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"33","issue":"2","first_page":"109","last_page":"111"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/sarcoglycanopathies","display_name":"sarcoglycanopathies","score":0.8190000057220459},{"id":"https://openalex.org/keywords/exercise-intolerance","display_name":"exercise intolerance","score":0.9079999923706055},{"id":"https://openalex.org/keywords/myoglobinuria","display_name":"myoglobinuria","score":1.0},{"id":"https://openalex.org/keywords/becker-muscular-dystrophy","display_name":"Becker muscular dystrophy","score":0.8640000224113464},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9459999799728394},{"id":"https://openalex.org/keywords/creatine-kinase-elevation","display_name":"creatine kinase elevation","score":0.7570000290870667},{"id":"https://openalex.org/keywords/scapular-winging","display_name":"scapular winging","score":0.9110000133514404},{"id":"https://openalex.org/keywords/proximal-muscle-weakness","display_name":"proximal muscle weakness","score":0.8180000185966492},{"id":"https://openalex.org/keywords/childhood-onset","display_name":"childhood onset","score":0.453000009059906},{"id":"https://openalex.org/keywords/muscle-biopsy","display_name":"muscle biopsy","score":0.3440000116825104}],"concepts":[{"id":"https://openalex.org/C2779640190","wikidata":"https://www.wikidata.org/wiki/Q1956682","display_name":"Myoglobinuria","level":3,"score":0.8110194206237793},{"id":"https://openalex.org/C2777321227","wikidata":"https://www.wikidata.org/wiki/Q5420062","display_name":"Exercise intolerance","level":3,"score":0.7594425678253174},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7194074988365173},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.6765201091766357},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.5550423860549927},{"id":"https://openalex.org/C2778435403","wikidata":"https://www.wikidata.org/wiki/Q243309","display_name":"Carnitine","level":2,"score":0.5518088936805725},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.5179378390312195},{"id":"https://openalex.org/C64943373","wikidata":"https://www.wikidata.org/wiki/Q2651003","display_name":"Alpha (finance)","level":4,"score":0.5118969678878784},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5086020231246948},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.48198550939559937},{"id":"https://openalex.org/C85265743","wikidata":"https://www.wikidata.org/wiki/Q885458","display_name":"Blot","level":3,"score":0.47062209248542786},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.42903780937194824},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.3945280611515045},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2974008023738861},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2619912624359131},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.25292712450027466},{"id":"https://openalex.org/C2779379848","wikidata":"https://www.wikidata.org/wiki/Q917069","display_name":"Rhabdomyolysis","level":2,"score":0.18259844183921814},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.16803419589996338},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.15484920144081116},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1148831844329834},{"id":"https://openalex.org/C49453240","wikidata":"https://www.wikidata.org/wiki/Q1592163","display_name":"Construct validity","level":3,"score":0.0},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.0},{"id":"https://openalex.org/C2775944032","wikidata":"https://www.wikidata.org/wiki/Q22907659","display_name":"Patient satisfaction","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001706","descriptor_name":"Biopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D008562","descriptor_name":"Membrane Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009212","descriptor_name":"Myoglobinuria","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D009212","descriptor_name":"Myoglobinuria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013053","descriptor_name":"Spectrophotometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017079","descriptor_name":"Exercise Tolerance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D049031","descriptor_name":"Sarcoglycans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D049411","descriptor_name":"Utrophin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1055/s-2002-32374","doi":"https://doi.org/10.1055/s-2002-32374","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-2002-32374","pdf_url":null,"source":{"id":"https://openalex.org/S44923075","display_name":"Neuropediatrics","issn_l":"0174-304X","issn":["0174-304X","1439-1899"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"journal-article"},{"id":"pmid:12075495","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12075495","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuropediatrics","raw_type":"Case Reports"},{"id":"pmh:oai:iris.unito.it:2318/41958","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2318/41958","pdf_url":null,"source":{"id":"https://openalex.org/S4306400637","display_name":"Institutional Research Information System University of Turin (University of Turin)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I55143463","host_organization_name":"University of Turin","host_organization_lineage":["https://openalex.org/I55143463"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2517454168","https://openalex.org/W2297640222","https://openalex.org/W1970835934","https://openalex.org/W1830007828","https://openalex.org/W2069418961","https://openalex.org/W7216838093","https://openalex.org/W3142230965","https://openalex.org/W1982882079","https://openalex.org/W1975864041","https://openalex.org/W1992543278"],"abstract_inverted_index":{"An":[0],"8-year-old":[1],"boy":[2],"was":[3,30],"referred":[4],"for":[5],"recent":[6],"onset":[7],"of":[8,57,99,126],"easy":[9],"fatigue.":[10],"He":[11],"showed":[12,54],"hyperCKemia":[13],"and":[14,36,51,70,79,105,110],"mild":[15,93],"scapular":[16],"winging.":[17],"Muscle":[18],"biopsy":[19],"on":[20],"the":[21,43,46,83,87,100,123],"quadriceps":[22],"muscle":[23],"demonstrated":[24],"slight":[25],"fibre":[26],"size":[27],"variability.":[28],"Dystrophin":[29],"normally":[31],"distributed,":[32],"carnitine":[33],"palmitoyl":[34],"transferase":[35],"glycolytic":[37],"enzymes":[38],"had":[39],"normal":[40],"activities.":[41],"In":[42],"following":[44],"years":[45,90],"patient":[47],"developed":[48],"exercise":[49],"intolerance":[50,109],"myoglobinuria.":[52],"Immunohistochemistry":[53],"marked":[55],"reduction":[56],"alpha-sarcoglycan,":[58],"confirmed":[59],"by":[60],"Western":[61],"blotting.":[62],"Molecular":[63],"analysis":[64],"revealed":[65],"compound":[66],"heterozygosity":[67],"with":[68,96],"Arg284Cys":[69],"Glu137Lys":[71],"substitutions,":[72],"corresponding":[73],"to":[74],"nucleotide":[75],"changes":[76],"C850":[77],"T":[78],"G409":[80],"A":[81],"in":[82,114],"gene.":[84],"At":[85],"present":[86],"patient,":[88],"20":[89],"old,":[91],"shows":[92],"proximal":[94],"weakness":[95],"prominent":[97],"involvement":[98],"paraspinal":[101],"muscles,":[102],"dorsal":[103],"kyphosis":[104],"lumbar":[106],"hyperlordosis.":[107],"Exercise":[108],"myoglobinuria,":[111],"already":[112],"described":[113],"Becker":[115],"muscular":[116],"dystrophy,":[117],"should":[118],"be":[119],"also":[120],"considered":[121],"among":[122],"possible":[124],"presentations":[125],"sarcoglycan":[127],"deficiencies.":[128]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
