{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T10:41:21Z","timestamp":1788777681061,"version":"build-2803163510"},"reference-count":99,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,8,16]]},"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:p>Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as by restrictive dermopathy or external restriction of the fetus in utero. The fetal akinesias are clinically and genetically heterogeneous, with causative mutations identified to date in a large number of genes encoding disparate parts of the motor system. However, for most patients, the molecular cause remains unidentified. One reason for this is because the tools are only now becoming available to efficiently and affordably identify mutations in a large panel of disease genes. Next-generation sequencing offers the promise, if sufficient cohorts of patients can be assembled, to identify the majority of the remaining genes on a research basis and facilitate efficient clinical molecular diagnosis. The benefits of identifying the causative mutation(s) for each individual patient or family include accurate genetic counselling and the options of prenatal diagnosis or preimplantation genetic diagnosis.<\/jats:p>\n                  <jats:p>In this review, we summarise known single-gene disorders affecting the spinal cord, peripheral nerves, neuromuscular junction or skeletal muscles that result in fetal akinesia. This audit of these known molecular and pathophysiological mechanisms involved in fetal akinesia provides a basis for improved molecular diagnosis and completing disease gene discovery.<\/jats:p>","DOI":"10.1136\/jmedgenet-2011-100211","type":"journal-article","created":{"date-parts":[[2011,10,8]],"date-time":"2011-10-08T00:25:39Z","timestamp":1318033539000},"page":"793-801","source":"Crossref","is-referenced-by-count":68,"title":["Fetal akinesia: review of the genetics of the neuromuscular causes: Table 1"],"prefix":"10.1136","volume":"48","author":[{"given":"Gianina","family":"Ravenscroft","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliot","family":"Sollis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian K","family":"Charles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn N","family":"North","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G","family":"Laing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,10,7]]},"reference":[{"key":"2025101710235557000_48.12.793.1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20611"},{"key":"2025101710235557000_48.12.793.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33221"},{"key":"2025101710235557000_48.12.793.3","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1212\/01.WNL.0000149763.15180.00","article-title":"The lethal phenotype of a homozygous nonsense mutation in the lamin A\/C gene","volume":"64","author":"van Engelen","year":"2005","journal-title":"Neurology"},{"key":"2025101710235557000_48.12.793.4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp290"},{"key":"2025101710235557000_48.12.793.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg244"},{"key":"2025101710235557000_48.12.793.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.07.007"},{"key":"2025101710235557000_48.12.793.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.11.009"},{"key":"2025101710235557000_48.12.793.8","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1172\/JCI118895","article-title":"Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association","volume":"98","author":"Burglen","year":"1996","journal-title":"J Clin Invest"},{"key":"2025101710235557000_48.12.793.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10698"},{"key":"2025101710235557000_48.12.793.10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400509"},{"key":"2025101710235557000_48.12.793.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-004-0825-3"},{"key":"2025101710235557000_48.12.793.12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30266"},{"key":"2025101710235557000_48.12.793.13","doi-asserted-by":"publisher","DOI":"10.1086\/520770"},{"key":"2025101710235557000_48.12.793.14","doi-asserted-by":"publisher","DOI":"10.1038\/39593"},{"key":"2025101710235557000_48.12.793.15","doi-asserted-by":"publisher","DOI":"10.1086\/301968"},{"key":"2025101710235557000_48.12.793.16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290109"},{"key":"2025101710235557000_48.12.793.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.36"},{"key":"2025101710235557000_48.12.793.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.65"},{"key":"2025101710235557000_48.12.793.19","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1424"},{"key":"2025101710235557000_48.12.793.20","doi-asserted-by":"publisher","DOI":"10.1086\/520771"},{"key":"2025101710235557000_48.12.793.21","doi-asserted-by":"publisher","DOI":"10.1038\/nature02896"},{"key":"2025101710235557000_48.12.793.22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10219"},{"key":"2025101710235557000_48.12.793.23","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8353"},{"key":"2025101710235557000_48.12.793.24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.009"},{"key":"2025101710235557000_48.12.793.25","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-7580.2002.00043.x"},{"key":"2025101710235557000_48.12.793.26","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-382"},{"key":"2025101710235557000_48.12.793.27","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80177-4"},{"key":"2025101710235557000_48.12.793.28","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0253"},{"key":"2025101710235557000_48.12.793.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.11.006"},{"key":"2025101710235557000_48.12.793.30","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199707000-00002"},{"key":"2025101710235557000_48.12.793.31","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200112935"},{"key":"2025101710235557000_48.12.793.32","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120310073016"},{"key":"2025101710235557000_48.12.793.33","doi-asserted-by":"publisher","DOI":"10.1086\/506257"},{"key":"2025101710235557000_48.12.793.34","doi-asserted-by":"publisher","DOI":"10.1086\/506256"},{"key":"2025101710235557000_48.12.793.35","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065425"},{"key":"2025101710235557000_48.12.793.36","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92652-6"},{"key":"2025101710235557000_48.12.793.37","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.022"},{"key":"2025101710235557000_48.12.793.38","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00066-X"},{"key":"2025101710235557000_48.12.793.39","doi-asserted-by":"publisher","DOI":"10.1126\/science.1127142"},{"key":"2025101710235557000_48.12.793.40","doi-asserted-by":"publisher","DOI":"10.1126\/science.1130837"},{"key":"2025101710235557000_48.12.793.41","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.05.007"},{"key":"2025101710235557000_48.12.793.42","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.016"},{"key":"2025101710235557000_48.12.793.43","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn386"},{"key":"2025101710235557000_48.12.793.44","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.7.4007"},{"key":"2025101710235557000_48.12.793.45","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181ae7cbc"},{"key":"2025101710235557000_48.12.793.46","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1212\/01.WNL.0000085865.55513.AE","article-title":"Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes","volume":"61","author":"Burke","year":"2003","journal-title":"Neurology"},{"key":"2025101710235557000_48.12.793.47","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000233837.79459.40"},{"key":"2025101710235557000_48.12.793.48","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00065-2"},{"key":"2025101710235557000_48.12.793.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.02.015"},{"key":"2025101710235557000_48.12.793.50","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.9.1334"},{"key":"2025101710235557000_48.12.793.51","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/s00401-004-0888-1","article-title":"Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)","volume":"108","author":"Schroder","year":"2004","journal-title":"Acta Neuropathol (Berl)"},{"key":"2025101710235557000_48.12.793.52","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.06.008"},{"key":"2025101710235557000_48.12.793.53","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.05.001"},{"key":"2025101710235557000_48.12.793.54","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.03.004"},{"key":"2025101710235557000_48.12.793.55","doi-asserted-by":"publisher","DOI":"10.1038\/ng2086"},{"key":"2025101710235557000_48.12.793.56","first-page":"105","article-title":"Fetal akinesia\u2013hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy","volume":"14","author":"Lidang Jensen","year":"1995","journal-title":"Clin Neuropathol"},{"key":"2025101710235557000_48.12.793.57","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.01102.x"},{"key":"2025101710235557000_48.12.793.58","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01384.x"},{"key":"2025101710235557000_48.12.793.59","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-175"},{"key":"2025101710235557000_48.12.793.60","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-6646(09)60022-X"},{"key":"2025101710235557000_48.12.793.61","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1212\/01.WNL.0000058763.90924.FA","article-title":"X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation","volume":"60","author":"Schara","year":"2003","journal-title":"Neurology"},{"key":"2025101710235557000_48.12.793.62","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2305"},{"key":"2025101710235557000_48.12.793.63","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181bacf45"},{"key":"2025101710235557000_48.12.793.64","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm094"},{"key":"2025101710235557000_48.12.793.65","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl221"},{"key":"2025101710235557000_48.12.793.66","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ejmg.2010.09.009","article-title":"De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins","volume":"54","author":"Hernandez-Lain","year":"2010","journal-title":"Eur J Med Genet"},{"key":"2025101710235557000_48.12.793.67","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22119"},{"key":"2025101710235557000_48.12.793.68","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00252-8"},{"key":"2025101710235557000_48.12.793.69","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"2025101710235557000_48.12.793.70","first-page":"803","article-title":"[Report of a rare distal arthrogrophy large family]","volume":"26","author":"Jiang","year":"2004","journal-title":"Yi Chuan"},{"key":"2025101710235557000_48.12.793.71","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-11"},{"key":"2025101710235557000_48.12.793.72","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256339.40667.fb"},{"key":"2025101710235557000_48.12.793.73","first-page":"426","article-title":"A variant of Freeman\u2013Sheldon syndrome maps to 11p15.5-pter","volume":"60","author":"Krakowiak","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025101710235557000_48.12.793.74","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"2025101710235557000_48.12.793.75","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0183-4"},{"key":"2025101710235557000_48.12.793.76","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230168.05328.f4"},{"key":"2025101710235557000_48.12.793.77","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.06.003"},{"key":"2025101710235557000_48.12.793.78","doi-asserted-by":"publisher","DOI":"10.1086\/376418"},{"key":"2025101710235557000_48.12.793.79","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-008-0694-5"},{"key":"2025101710235557000_48.12.793.80","doi-asserted-by":"publisher","DOI":"10.1096\/fj.06-6899com"},{"key":"2025101710235557000_48.12.793.81","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"2025101710235557000_48.12.793.82","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.8.1083"},{"key":"2025101710235557000_48.12.793.83","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040584"},{"key":"2025101710235557000_48.12.793.84","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.1002\/ajmg.a.31495","article-title":"Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8","volume":"140","author":"Toydemir","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2025101710235557000_48.12.793.85","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp587"},{"key":"2025101710235557000_48.12.793.86","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33433"},{"key":"2025101710235557000_48.12.793.87","doi-asserted-by":"publisher","DOI":"10.1038\/360591a0"},{"key":"2025101710235557000_48.12.793.88","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/ajmg.a.30837","article-title":"Three cases with de novo 6q imbalance and variable prenatal phenotype","volume":"136","author":"Grati","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101710235557000_48.12.793.89","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.09.002"},{"key":"2025101710235557000_48.12.793.90","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<112::AID-AJMG4>3.0.CO;2-U"},{"key":"2025101710235557000_48.12.793.91","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10775"},{"key":"2025101710235557000_48.12.793.92","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32443"},{"key":"2025101710235557000_48.12.793.93","first-page":"11","article-title":"Familial cirrhosis of the liver with storage of abnormal glycogen","volume":"5","author":"Andersen","year":"1956","journal-title":"Lab Invest"},{"key":"2025101710235557000_48.12.793.94","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<187::AID-AJMG20>3.0.CO;2-7"},{"key":"2025101710235557000_48.12.793.95","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/01.WNL.0000138429.11433.0D","article-title":"Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)","volume":"63","author":"Bruno","year":"2004","journal-title":"Neurology"},{"key":"2025101710235557000_48.12.793.96","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30945"},{"key":"2025101710235557000_48.12.793.97","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2626"},{"key":"2025101710235557000_48.12.793.98","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21293"},{"key":"2025101710235557000_48.12.793.99","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21221"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmedgenet-2011-100211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:24:04Z","timestamp":1760721844000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmedgenet-2011-100211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,7]]},"references-count":99,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2011,11,21]]},"published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1136\/jmedgenet-2011-100211"],"URL":"https:\/\/doi.org\/10.1136\/jmedgenet-2011-100211","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,7]]}}}