{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:38:36Z","timestamp":1787071116999,"version":"build-2736575974"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:p>\n                    Anoctaminopathies are a group of autosomal recessive skeletal muscle disorders with various clinical phenotypes, caused by anoctamin 5 (\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    ) gene mutations and the abnormal expression of\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    protein. Patients with recessive mutations in\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    present with variable symptoms ranging from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and\/or distal muscle weakness. Here, we describe the clinical, pathological, and molecular findings of two unrelated patients with\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    -related muscular dystrophy (MD). Ninety-six histologically identified MD cases were subjected to next-generation sequencing using a customized panel of 54 genes (IIlumina Design Studio). Two patients were diagnosed with\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    -related MD. One patient had a pathogenic homozygous mutation of c.1406G&gt;A in exon 14, while the other patient had a novel heterozygous mutation of c.2141C&gt;G in exon 19 of\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    gene. Both showed two different phenotypes (limb girdle MD and Miyoshi myopathy) and histomorphological patterns. Muscle biopsy of one patient in addition showed amyloid deposit in the walls of interstitial blood vessels.\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    -related MD is a heterogeneous disease with different clinical phenotypes as well as genotypes. All muscle biopsies with unclassified muscular dystrophies should be subjected to Congo red stain. The results of this study suggest that screening for\n                    <jats:italic toggle=\"yes\">ANO5<\/jats:italic>\n                    gene should represent an early step in the diagnostic work-up of the patients with undiagnosed MD and persistent asymptomatic hyperCKemia, even when muscle biopsy histomorphology is normal.\n                  <\/jats:p>","DOI":"10.4103\/0028-3886.359155","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T03:31:47Z","timestamp":1667273507000},"page":"2169-2173","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent"],"prefix":"10.4103","volume":"70","author":[{"given":"Swati","family":"Mahajan","sequence":"first","affiliation":[{"name":"Neuropathology Laboratory, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aishwarya","family":"Dhall","sequence":"additional","affiliation":[{"name":"Neuropathology Laboratory, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bandana","family":"Jassal","sequence":"additional","affiliation":[{"name":"Neuropathology Laboratory, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvee","family":"Saluja","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Faruq","sequence":"additional","affiliation":[{"name":"Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaishali","family":"Suri","sequence":"additional","affiliation":[{"name":"Neuropathology Laboratory, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roopa","family":"Rajan","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venugopalan Y","family":"Vishnu","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehar C","family":"Sharma","sequence":"additional","affiliation":[{"name":"Neuropathology Laboratory, Neurosciences Center, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,10,20]]},"reference":[{"key":"R1-20250926","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1085\/jgp.201812097","article-title":"Anoctamin 5\/TMEM16E facilitates muscle precursor cell fusion","volume":"150","author":"Whitlock","year":"2018","journal-title":"J Gen Physiol"},{"key":"R2-20250926","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1093\/hmg\/ddw063","article-title":"Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy","volume":"25","author":"Griffin","year":"2016","journal-title":"Hum Mol Genet"},{"key":"R3-20250926","doi-asserted-by":"crossref","first-page":"443","DOI":"10.3233\/JND-200515","article-title":"Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations","volume":"7","author":"V\u00e1zquez","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"R4-20250926","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ajhg.2009.12.013","article-title":"Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies","volume":"86","author":"Bolduc","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R5-20250926","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.nmd.2017.01.012","article-title":"A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties","volume":"27","author":"Kadoya","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"R6-20250926","doi-asserted-by":"crossref","first-page":"e12506","DOI":"10.1097\/MD.0000000000012506","article-title":"First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features","volume":"97","author":"Hu","year":"2018","journal-title":"Medicine (Baltimore)"},{"key":"R7-20250926","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1002\/acn3.50801","article-title":"Clinical and molecular findings in a cohort of ANO5-related myopathy","volume":"6","author":"Silva","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"R8-20250926","doi-asserted-by":"crossref","first-page":"173","DOI":"10.17712\/nsj.2015.2.20140547","article-title":"Clinical and genetic features of anoctaminopathy in Saudi Arabia","volume":"20","author":"Bohlega","year":"2015","journal-title":"Neurosciences (Riyadh)"},{"key":"R9-20250926","doi-asserted-by":"crossref","first-page":"e0175343","DOI":"10.1371\/journal.pone.0175343","article-title":"Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing","volume":"12","author":"Yu","year":"2017","journal-title":"PLoS One"},{"key":"R10-20250926","doi-asserted-by":"crossref","first-page":"559327","DOI":"10.3389\/fneur.2020.559327","article-title":"Clinical and genomic evaluation of 207 genetic myopathies in the Indian subcontinent","volume":"5","author":"Chakravorty","year":"2020","journal-title":"Front Neurol"},{"key":"R11-20250926","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/ncn3.175","article-title":"First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene","volume":"3","author":"Kida","year":"2015","journal-title":"Neurol Clin Neurosci"},{"key":"R12-20250926","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/brain\/awq294","article-title":"A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy","volume":"134","author":"Hicks","year":"2011","journal-title":"Brain"},{"key":"R13-20250926","doi-asserted-by":"crossref","first-page":"2967","DOI":"10.1007\/s10072-020-04453-y","article-title":"Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern","volume":"41","author":"Segu\u00ed","year":"2020","journal-title":"Neurol Sci"},{"key":"R14-20250926","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.nmd.2015.03.011","article-title":"Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations","volume":"25","author":"Savarese","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"R15-20250926","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2010.10.017","article-title":"Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal recessive limb-girdle muscular dystrophy","volume":"87","author":"Gundesli","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R16-20250926","doi-asserted-by":"crossref","first-page":"797","DOI":"10.4103\/0028-3886.325313","article-title":"Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future","volume":"69","author":"Attri","year":"2021","journal-title":"Neurol India"},{"key":"R17-20250926","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.4103\/0028-3886.333448","article-title":"Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype","volume":"69","author":"Avila","year":"2021","journal-title":"Neurol India"},{"key":"R18-20250926","doi-asserted-by":"crossref","first-page":"177","DOI":"10.4103\/0028-3886.310067","article-title":"The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies","volume":"69","author":"Papadopoulos","year":"2021","journal-title":"Neurol India"},{"key":"R19-20250926","doi-asserted-by":"crossref","first-page":"179","DOI":"10.4103\/0028-3886.279696","article-title":"Spontaneous Conception, Pericardial Effusion, and Pseudohypertrophic Myopathy Mimicking Muscular Dystrophy in Delayed Presentation of Sheehan Syndrome","volume":"68","author":"Boro","year":"2020","journal-title":"Neurol India"},{"key":"R20-20250926","doi-asserted-by":"crossref","first-page":"518","DOI":"10.4103\/0028-3886.284351","article-title":"A symptomatic female patient with duchenne muscular dystrophy gene mutation showing rimmed vacuoles in muscle biopsy","volume":"68","author":"Ban","year":"2020","journal-title":"Neurol India"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.359155","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:41:43Z","timestamp":1787067703000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.359155"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.359155","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"2021-10-06","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-26","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}