{"doi":"10.1152/ajpcell.00350.2021","title":"Sex differences in the involvement of skeletal and cardiac muscles in myopathic <i>Ano5<sup>−/−</sup></i> mice","abstract":"Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by recessive mutations in the Anoctamin-5 gene ( ANO5, TMEM16E). Although ANO5 myopathy is not X-chromosome linked, we performed a meta-analysis of the research literature and found that three-quarters of patients with LGMD-R12 are males. Females are less likely to present with moderate to severe skeletal muscle and/or cardiac pathology. Because these sex differences could be explained in several ways, we compared males and females in a mouse model of LGMD-R12. This model recapitulates the sex differences in human LGMD-R12. Only male Ano5 −/− mice had elevated serum creatine kinase after exercise and exhibited defective membrane repair after laser injury. In contrast, by these measures, female Ano5 −/− mice were indistinguishable from wild type. Despite these differences, both male and female Ano5 −/− mice exhibited exercise intolerance. Although exercise intolerance of male mice can be explained by skeletal muscle dysfunction, echocardiography revealed that Ano5 −/− female mice had features of cardiomyopathy that may be responsible for their exercise intolerance. These findings heighten concerns that mutations of ANO5 in humans may be linked to cardiac disease.","journal":"American Journal of Physiology-Cell Physiology","year":2022,"id":287186,"datarank":0.26737258324018254,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.059428429072198925,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.059428429072198925,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":3,"citers_with_citation_signal":2,"citers_with_endowment":2,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9482,"is_data_producer":true,"deposit_databanks":{"figshare":["10.6084/m9.figshare.16661206.v3"]},"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":966864,"name":"Fang Wu","orcid":"0000-0003-3189-6148","position":1,"is_corresponding":false},{"id":575014,"name":"Nasab Ghazal","orcid":"0000-0001-9298-3144","position":2,"is_corresponding":false},{"id":294077,"name":"Jennifer Q. Kwong","orcid":"0000-0001-9867-7658","position":3,"is_corresponding":false},{"id":296288,"name":"H. Criss Hartzell","orcid":"0000-0002-3393-1528","position":4,"is_corresponding":false},{"id":296289,"name":"Hyo‐Jung Choo","orcid":"0000-0002-6280-0332","position":5,"is_corresponding":false},{"id":296287,"name":"Steven Foltz","orcid":"0000-0002-9851-3693","position":0,"is_corresponding":true}],"reference_count":69,"raw_metadata":null,"created_at":"2026-07-19T00:29:56.781756Z","pmid":"35020501","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":[]}