{"id":"https://openalex.org/W2000931006","doi":"https://doi.org/10.1002/humu.20356","title":"Mutations in RYR1 in malignant hyperthermia and central core disease","display_name":"Mutations in RYR1 in malignant hyperthermia and central core disease","publication_year":2006,"publication_date":"2006-08-17","ids":{"openalex":"https://openalex.org/W2000931006","doi":"https://doi.org/10.1002/humu.20356","mag":"2000931006","pmid":"https://pubmed.ncbi.nlm.nih.gov/16917943"},"language":"en","primary_location":{"id":"doi:10.1002/humu.20356","doi":"https://doi.org/10.1002/humu.20356","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20356","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20356","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2000931006"],"child_works_count":0,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20356","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5027517883","display_name":"Rachel Robinson","orcid":"https://orcid.org/0009-0005-9466-5891","observed_orcids":["https://orcid.org/0009-0005-9466-5891"]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Rachel Robinson","raw_affiliation_strings":["Malignant Hyperthermia Investigation Unit, St James' University Hospital, Leeds, United Kingdom. medrlr@leeds.ac.uk","Malignant Hyperthermia Investigation Unit, St James' University Hospital, Leeds, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Malignant Hyperthermia Investigation Unit, St James' University Hospital, Leeds, United Kingdom. medrlr@leeds.ac.uk","institution_ids":["https://openalex.org/I2801331674"]},{"raw_affiliation_string":"Malignant Hyperthermia Investigation Unit, St James' University Hospital, Leeds, United Kingdom","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109034764","display_name":"Danielle Carpenter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Danielle Carpenter","raw_affiliation_strings":["Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112608569","display_name":"Marie\u2010Anne Shaw","orcid":"https://orcid.org/0009-0001-2084-5727","observed_orcids":["https://orcid.org/0009-0001-2084-5727","https://orcid.org/0000-0001-6718-5423"]},"institutions":[{"id":"https://openalex.org/I130828816","display_name":"University of Leeds","ror":"https://ror.org/024mrxd33","country_code":"GB","type":"education","lineage":["https://openalex.org/I130828816"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Marie-Anne Shaw","raw_affiliation_strings":["Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Integrative and Comparative Biology, Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom","institution_ids":["https://openalex.org/I130828816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103369990","display_name":"Jane P. Halsall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jane Halsall","raw_affiliation_strings":["Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008365766","display_name":"Philip Morgan Hopkins","orcid":"https://orcid.org/0000-0002-8127-1739","observed_orcids":["https://orcid.org/0000-0002-8127-1739"]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Philip Hopkins","raw_affiliation_strings":["Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Malignant Hyperthermia (MH) Investigation Unit, Academic Unit Anaesthesia, St James' University Hospital, Leeds, United Kingdom","institution_ids":["https://openalex.org/I2801331674"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5027517883"],"corresponding_institution_ids":["https://openalex.org/I2801331674"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":2.1421,"has_fulltext":true,"cited_by_count":513,"citation_normalized_percentile":{"value":0.89654413,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"27","issue":"10","first_page":"977","last_page":"989"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.8291000127792358,"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/T10493","display_name":"Ion channel regulation and function","score":0.8291000127792358,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.10000000149011612,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.02889999933540821,"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/ryr1","display_name":"RyR1","score":0.9459999799728394},{"id":"https://openalex.org/keywords/ryanodine-receptor","display_name":"ryanodine receptor","score":0.984000027179718},{"id":"https://openalex.org/keywords/malignant-hyperthermia","display_name":"malignant hyperthermia","score":0.9940000176429749},{"id":"https://openalex.org/keywords/central-core-disease","display_name":"central core disease","score":1.0},{"id":"https://openalex.org/keywords/congenital-myopathy","display_name":"congenital myopathy","score":0.8960000276565552},{"id":"https://openalex.org/keywords/excitation-contraction-coupling","display_name":"excitation-contraction coupling","score":0.9980000257492065},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9430000185966492},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9980000257492065},{"id":"https://openalex.org/keywords/diagnosis","display_name":"diagnosis","score":0.5600000023841858},{"id":"https://openalex.org/keywords/pharmacogenetics","display_name":"pharmacogenetics","score":0.6370000243186951}],"concepts":[{"id":"https://openalex.org/C2776333580","wikidata":"https://www.wikidata.org/wiki/Q18031340","display_name":"RYR1","level":4,"score":0.9389832019805908},{"id":"https://openalex.org/C2778575482","wikidata":"https://www.wikidata.org/wiki/Q1585081","display_name":"Malignant hyperthermia","level":2,"score":0.9073293209075928},{"id":"https://openalex.org/C2777699224","wikidata":"https://www.wikidata.org/wiki/Q638975","display_name":"Central core disease","level":5,"score":0.8814197778701782},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8071284294128418},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7327048778533936},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5777834057807922},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5315123796463013},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.48784923553466797},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.479250431060791},{"id":"https://openalex.org/C113217602","wikidata":"https://www.wikidata.org/wiki/Q416781","display_name":"Ryanodine receptor","level":3,"score":0.4490474462509155},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4403865337371826},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3589975833892822},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3526841402053833},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24138912558555603},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.19069904088974},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.1556936502456665},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.13579651713371277},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.07786807417869568},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.07376298308372498}],"mesh":[{"descriptor_ui":"D002118","descriptor_name":"Calcium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008305","descriptor_name":"Malignant Hyperthermia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008305","descriptor_name":"Malignant Hyperthermia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019837","descriptor_name":"Ryanodine Receptor Calcium Release Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019837","descriptor_name":"Ryanodine Receptor Calcium Release Channel","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D020512","descriptor_name":"Myopathy, Central Core","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020512","descriptor_name":"Myopathy, Central Core","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.20356","doi":"https://doi.org/10.1002/humu.20356","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20356","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20356","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:16917943","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16917943","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/humu.20356","doi":"https://doi.org/10.1002/humu.20356","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20356","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20356","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2000931006.pdf","grobid_xml":"https://content.openalex.org/works/W2000931006.grobid-xml"},"referenced_works_count":128,"referenced_works":["https://openalex.org/W61677070","https://openalex.org/W192977890","https://openalex.org/W1525891657","https://openalex.org/W1549003091","https://openalex.org/W1558371851","https://openalex.org/W1585823339","https://openalex.org/W1769734888","https://openalex.org/W1784574709","https://openalex.org/W1810875271","https://openalex.org/W1821863314","https://openalex.org/W1924509038","https://openalex.org/W1963782567","https://openalex.org/W1969581020","https://openalex.org/W1971983860","https://openalex.org/W1978849310","https://openalex.org/W1979057236","https://openalex.org/W1981753053","https://openalex.org/W1985581391","https://openalex.org/W1989286153","https://openalex.org/W1989655857","https://openalex.org/W1990198407","https://openalex.org/W1992851839","https://openalex.org/W1992852302","https://openalex.org/W1994914985","https://openalex.org/W1996008020","https://openalex.org/W1996462239","https://openalex.org/W1996874167","https://openalex.org/W1999257861","https://openalex.org/W2001331591","https://openalex.org/W2002983963","https://openalex.org/W2003484334","https://openalex.org/W2003904908","https://openalex.org/W2003907635","https://openalex.org/W2004018202","https://openalex.org/W2005123575","https://openalex.org/W2006343177","https://openalex.org/W2008583911","https://openalex.org/W2011925231","https://openalex.org/W2015879884","https://openalex.org/W2017903490","https://openalex.org/W2018417695","https://openalex.org/W2034044880","https://openalex.org/W2035808268","https://openalex.org/W2039404271","https://openalex.org/W2039433998","https://openalex.org/W2041402011","https://openalex.org/W2042818460","https://openalex.org/W2044296073","https://openalex.org/W2046605540","https://openalex.org/W2047664621","https://openalex.org/W2048982382","https://openalex.org/W2050199236","https://openalex.org/W2051023487","https://openalex.org/W2051712388","https://openalex.org/W2052133214","https://openalex.org/W2054332290","https://openalex.org/W2054761365","https://openalex.org/W2058402192","https://openalex.org/W2059849324","https://openalex.org/W2060963599","https://openalex.org/W2061076110","https://openalex.org/W2061416578","https://openalex.org/W2062147412","https://openalex.org/W2062804279","https://openalex.org/W2063391086","https://openalex.org/W2063642946","https://openalex.org/W2065896050","https://openalex.org/W2069240375","https://openalex.org/W2069273838","https://openalex.org/W2072931441","https://openalex.org/W2073394972","https://openalex.org/W2077814159","https://openalex.org/W2080823855","https://openalex.org/W2081447030","https://openalex.org/W2083049504","https://openalex.org/W2083330268","https://openalex.org/W2084147946","https://openalex.org/W2087039809","https://openalex.org/W2087873782","https://openalex.org/W2089115225","https://openalex.org/W2091248625","https://openalex.org/W2091517601","https://openalex.org/W2092872815","https://openalex.org/W2094663915","https://openalex.org/W2101673030","https://openalex.org/W2101758219","https://openalex.org/W2102145465","https://openalex.org/W2104267385","https://openalex.org/W2105468959","https://openalex.org/W2106343935","https://openalex.org/W2106685519","https://openalex.org/W2109822172","https://openalex.org/W2115582624","https://openalex.org/W2115725862","https://openalex.org/W2118397499","https://openalex.org/W2124905536","https://openalex.org/W2137283585","https://openalex.org/W2140152140","https://openalex.org/W2141014986","https://openalex.org/W2141309071","https://openalex.org/W2141547153","https://openalex.org/W2144739553","https://openalex.org/W2145147441","https://openalex.org/W2146986254","https://openalex.org/W2148269081","https://openalex.org/W2149864930","https://openalex.org/W2150181869","https://openalex.org/W2150763524","https://openalex.org/W2150893018","https://openalex.org/W2150962542","https://openalex.org/W2153379369","https://openalex.org/W2163073874","https://openalex.org/W2163246141","https://openalex.org/W2165628926","https://openalex.org/W2165729784","https://openalex.org/W2167604030","https://openalex.org/W2170533718","https://openalex.org/W2170776735","https://openalex.org/W2408350377","https://openalex.org/W4234479903","https://openalex.org/W4320801362","https://openalex.org/W4323874117","https://openalex.org/W6607906175","https://openalex.org/W6632795825","https://openalex.org/W6634988417","https://openalex.org/W6638511794","https://openalex.org/W6638583145","https://openalex.org/W6685437588"],"related_works":["https://openalex.org/W2091248625","https://openalex.org/W2047664621","https://openalex.org/W2412205631","https://openalex.org/W2039433998","https://openalex.org/W2006343177","https://openalex.org/W4250973483","https://openalex.org/W1999257861","https://openalex.org/W1972624141","https://openalex.org/W3121501418","https://openalex.org/W1496574579"],"abstract_inverted_index":{"The":[0,87],"RYR1":[1,158],"gene":[2,29,44,90],"encodes":[3,34],"the":[4,14,28,43,53,154,168,172],"skeletal":[5,20],"muscle":[6,21],"isoform":[7],"ryanodine":[8],"receptor":[9],"and":[10,19,33,59,71,85,101,131,165,167],"is":[11,114],"fundamental":[12],"to":[13,25,152,177],"process":[15],"of":[16,37,76,89,99,110,118,120,145,157,174,181],"excitation-contraction":[17],"coupling":[18],"calcium":[22,112],"homeostasis.":[23],"Mapping":[24],"chromosome":[26],"19q13.2,":[27],"comprises":[30],"106":[31],"exons":[32],"a":[35,77,115,143],"protein":[36],"5,038":[38],"amino":[39],"acids.":[40],"Mutations":[41],"in":[42,48,72,97,161],"have":[45,134],"been":[46],"found":[47],"association":[49,162],"with":[50,142,163],"several":[51],"diseases:":[52],"pharmacogenetic":[54],"disorder,":[55],"malignant":[56],"hyperthermia":[57],"(MH);":[58],"three":[60],"congenital":[61,78],"myopathies,":[62],"including":[63],"central":[64],"core":[65],"disease":[66,69,146],"(CCD),":[67],"multiminicore":[68],"(MmD),":[70],"an":[73],"isolated":[74],"case":[75],"myopathy":[79],"characterized":[80],"on":[81,171],"histology":[82],"by":[83],"cores":[84],"rods.":[86],"majority":[88],"mutations":[91,138,159],"reported":[92,160],"are":[93],"missense":[94],"changes":[95],"identified":[96],"cases":[98],"MH":[100,130,164],"CCD.":[102],"In":[103],"vitro":[104],"analysis":[105],"has":[106],"confirmed":[107],"that":[108,137],"alteration":[109],"normal":[111],"homeostasis":[113],"functional":[116],"consequence":[117],"some":[119],"these":[121,182],"changes.":[122],"Genotype-phenotype":[123],"correlation":[124],"studies":[125],"performed":[126],"using":[127],"data":[128,176],"from":[129],"CCD":[132,166],"patients":[133],"also":[135],"suggested":[136],"may":[139],"be":[140],"associated":[141],"range":[144],"severity":[147],"phenotypes.":[148],"This":[149],"review":[150],"aims":[151],"summarize":[153],"current":[155],"understanding":[156],"present":[169],"viewpoint":[170],"use":[173],"mutation":[175],"aid":[178],"clinical":[179],"diagnosis":[180],"conditions.":[183]},"counts_by_year":[{"year":2026,"cited_by_count":19},{"year":2025,"cited_by_count":27},{"year":2024,"cited_by_count":13},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":22},{"year":2021,"cited_by_count":18},{"year":2020,"cited_by_count":24},{"year":2019,"cited_by_count":25},{"year":2018,"cited_by_count":31},{"year":2017,"cited_by_count":23},{"year":2016,"cited_by_count":23},{"year":2015,"cited_by_count":27},{"year":2014,"cited_by_count":30},{"year":2013,"cited_by_count":35},{"year":2012,"cited_by_count":35}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
