{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T10:10:54Z","timestamp":1780049454400,"version":"3.53.1"},"reference-count":36,"publisher":"SAGE Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2020,9,18]]},"abstract":"<jats:p>Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. Objective: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients. Methods: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included. P1 and P2, belonging to group 1, had normal muscle strength; Group 2, P3, P4 and P5, presented with muscular weakness. Muscle strength was measured by manual muscle testing, Medical Research Council (MRC) grades 1\/5 to 5\/5. Laboratory exams included serum CK levels, nerve conduction studies (NCS)\/needle electromyography (EMG), pulmonary function tests, EKG and cardiac ultrasound. ANO5 molecular screening was performed with different approaches. Results: Group 1 patients showed myalgias with hyperCKemia or isolated hyperCKemia. Group 2 patients presented with limb-girdle or proximo-distal muscular weakness. Serum CK levels ranged from 897 to 5000 UI\/L. Muscle biopsy analysis in P4 and P5 showed subsarcolemmal mitochondrial aggregates. Electron microscopy confirmed mitochondrial proliferation and revealed discontinuity of the sarcolemmal membrane. Muscle MRI showed asymmetrical fibro-fatty substitution predominant in the lower limbs. P1 and P2 were compound heterozygous for c.191dupA (p.Asn64Lysfs*15) and c.1898\u200a+\u200aG&gt;A; P3 was homozygous for the c.692G&gt;T. (p.Gly231Val); P4 harbored a novel biallelic homozygous exons 1\u20137 ANO5 gene deletion, and P5 was homozygous for a c.172 C\u200a&gt;\u200aT (p.(Arg 58 Trp)) ANO5 pathogenic variant. Conclusions: Our cohort confirms the wide clinical variability and enlarge the genetic spectrum of ANO5-related myopathies.<\/jats:p>","DOI":"10.3233\/jnd-200515","type":"journal-article","created":{"date-parts":[[2020,9,8]],"date-time":"2020-09-08T10:16:32Z","timestamp":1599560192000},"page":"443-451","source":"Crossref","is-referenced-by-count":16,"title":["Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations"],"prefix":"10.1177","volume":"7","author":[{"given":"Jos\u00e9","family":"V\u00e1zquez","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, National Rehabilitation Institute, \u201cLuis Guillermo Ibarra Ibarra\u201d, M\u00e9xico"},{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Lefeuvre","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Elena","family":"Escobar","sequence":"additional","affiliation":[{"name":"Department of Electromyography and Muscle Dystrophies, National Rehabilitation Institute, \u201cLuis Guillermo Ibarra Ibarra\u201d, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra Berenice","family":"Luna Angulo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, National Rehabilitation Institute, \u201cLuis Guillermobarra Ibarra\u201d, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Miranda Duarte","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Rehabilitation Institute, \u201cLuis Guillermo Ibarra Ibarra\u201d, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Delia Hernandez","sequence":"additional","affiliation":[{"name":"Department of Pathology, National Rehabilitation Institute, \u201cLuis Guillermo Ibarra Ibarra\u201d, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Brisset","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert-Yves","family":"Carlier","sequence":"additional","affiliation":[{"name":"APHP, GH U. Paris Saclay, DMU Smart Imaging, Department of Radiology, Raymond Poincar\u00e9 teaching Hospital, 104 Bld R. Poincar\u00e9, 92380 Garches, France; U 1179 INSERM, Universit\u00e9 Paris-Saclay"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"APHP, Department of Genetics, Cochin Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Durand-Canard","sequence":"additional","affiliation":[{"name":"APHP, Service of Physiological Explorations Raymond Poincar\u00e9 Hospital, 104 Bld Raymond Poincar\u00e9, 92380 Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Nicolas","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"APHP, Department of Neurology, Raymond Poincar\u00e9 Hospital, North-East-Ile-de-France Neuromuscular Pathology Reference Center, U 1179 INSERM, University Saint Quentin en Yvelines Versailles; Paris-Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"1201","key":"10.3233\/JND-200515_ref1","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1098\/rspb.1982.0056","article-title":"A calcium-dependent transient outward current in Xenopus laevis oocytes","volume":"215","author":"Miledi","year":"1982","journal-title":"Proc R Soc London - Biol Sci"},{"issue":"1","key":"10.3233\/JND-200515_ref2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1113\/jphysiol.1982.sp014372","article-title":"Voltage-activated and calcium-activated currents studied in solitary rod inner segments from the salamander retina","volume":"331","author":"Bader","year":"1982","journal-title":"J Physiol"},{"issue":"2","key":"10.3233\/JND-200515_ref4","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1152\/physrev.00039.2011","article-title":"Structure and function of tmem16 proteins (anoctamins)","volume":"94","author":"Pedemonte","year":"2014","journal-title":"Physiol Rev"},{"issue":"5","key":"10.3233\/JND-200515_ref6","first-page":"1345","article-title":"Identification and characterization of TMEM16E and TMEM16F genes in silico","volume":"24","author":"Katoh","year":"2004","journal-title":"Int J Oncol"},{"issue":"6","key":"10.3233\/JND-200515_ref7","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1086\/421527","article-title":"The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)","volume":"74","author":"Tsutsumi","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"11","key":"10.3233\/JND-200515_ref8","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"},{"issue":"10","key":"10.3233\/JND-200515_ref9","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":"10.3233\/JND-200515_ref10","doi-asserted-by":"crossref","unstructured":"Chandra G , Defour A , Mamchoui K , Pandey K , Mishra S , Mouly V , et al. 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