{"doi":"10.1002/mus.27052","title":"Cardiomyopathy in limb girdle muscular dystrophy <scp>R9</scp>, <scp><i>FKRP</i></scp> related","abstract":"INTRODUCTION: Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort. METHODS: Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated. RESULTS: Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08). DISCUSSION: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.","journal":"Muscle & Nerve","year":2020,"id":98016,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":32,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7761,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":485528,"name":"Julia A. Richardson","orcid":null,"position":1,"is_corresponding":false},{"id":485529,"name":"Katie Lutz","orcid":null,"position":2,"is_corresponding":false},{"id":485530,"name":"Benton Ng","orcid":null,"position":3,"is_corresponding":false},{"id":485531,"name":"Shelley Mockler","orcid":null,"position":4,"is_corresponding":false},{"id":485532,"name":"Katie M. Laubscher","orcid":null,"position":5,"is_corresponding":false},{"id":484379,"name":"Carrie Stephan","orcid":"0000-0001-5782-4957","position":6,"is_corresponding":false},{"id":370236,"name":"Bridget Zimmerman","orcid":null,"position":7,"is_corresponding":false},{"id":485533,"name":"Erik Edens","orcid":null,"position":8,"is_corresponding":false},{"id":484380,"name":"Benjamin E. Reinking","orcid":"0000-0003-0571-0928","position":9,"is_corresponding":false},{"id":435495,"name":"Katherine D. Mathews","orcid":"0000-0003-4160-0435","position":10,"is_corresponding":false},{"id":484378,"name":"Eric M. Libell","orcid":"0000-0001-5557-3429","position":0,"is_corresponding":true}],"reference_count":35,"raw_metadata":null,"created_at":"2026-07-18T22:36:34.157932Z","pmid":"32914449","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}