{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:05:09Z","timestamp":1753891509633,"version":"3.41.2"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in <jats:italic>ANO5<\/jats:italic>. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and markedly elevated creatine kinase. Next generation sequencing using a custom-designed neuromuscular panel was performed in both patients. In one patient, 336 genes were targeted for casual variants and in the other patient (using a later panel design), 464 genes were targeted. One patient was homozygous for a novel splice variant [c.294+5G&amp;gt;A; p.(Ala98Ins4<jats:sup>*<\/jats:sup>)] in <jats:italic>ANO5<\/jats:italic>. Another patient was compound heterozygous for two variants in <jats:italic>ANO5<\/jats:italic>; a common frameshift variant [c.191dupA; p.(Asn64fs)] and a novel missense variant [c.952G&amp;gt;C; p.(Ala318Pro)]. These findings support the utility of next generation sequencing in the diagnosis of patients presenting with a Limb girdle muscular dystrophy phenotype and extends the genotypic spectrum of <jats:italic>ANO5<\/jats:italic> disease.<\/jats:p>","DOI":"10.3389\/fneur.2022.868655","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T05:53:25Z","timestamp":1649397205000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report"],"prefix":"10.3389","volume":"13","author":[{"given":"Matthew","family":"Katz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fleur 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