{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T07:42:10Z","timestamp":1777794130788,"version":"3.51.4"},"reference-count":23,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.nmd.2018.09.008","type":"journal-article","created":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T02:26:45Z","timestamp":1538706405000},"page":"1016-1021","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case"],"prefix":"10.1016","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1613-1462","authenticated-orcid":false,"given":"Richa","family":"Kulshrestha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0033-7423","authenticated-orcid":false,"given":"Natalie","family":"Forrester","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3376-730X","authenticated-orcid":false,"given":"Thalia","family":"Antoniadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0088-5307","authenticated-orcid":false,"given":"Tracey","family":"Willis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sethil Kumar","family":"Sethuraman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9811-8335","authenticated-orcid":false,"given":"Martin","family":"Samuels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2018.09.008_bib0001","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","article-title":"Mutations in the gene coding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1","volume":"29","author":"Grohmann","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0002","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/humu.20525","article-title":"Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis","volume":"28","author":"Guenther","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2018.09.008_bib0003","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2014.10.002","article-title":"Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2","volume":"95","author":"Cottenie","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0004","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/jhg.2017.15","article-title":"Clinical diversity caused by novel IGHMBP2 variants","volume":"62","author":"Yuan","year":"2017","journal-title":"J Hum Genet"},{"issue":"2","key":"10.1016\/j.nmd.2018.09.008_bib0005","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.nmd.2016.11.008","article-title":"IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients","volume":"27","author":"Liu","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"10.1016\/j.nmd.2018.09.008_bib0006","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.nmd.2016.06.457","article-title":"Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2","volume":"26","author":"Pedurupillay","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2018.09.008_bib0007","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2018.09.008_bib0008","unstructured":"Sian Ellard, Emma L Baple, Martina Owens, Diana M Eccles, Stephen Abbs, Zandra Deans et al. ACGS best practice guidelines for variant classification 2017. http:\/\/www.acgs.uk.com\/media\/1059605\/uk_practice_guidelines_for_variant_classification_2017_24_05_17.pdf"},{"key":"10.1016\/j.nmd.2018.09.008_bib0009","doi-asserted-by":"crossref","first-page":"17463","DOI":"10.1016\/S0021-9258(19)85357-7","article-title":"The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region","volume":"268","author":"Fukita","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2018.09.008_bib0010","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/hmg\/ddh222","article-title":"Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"13","author":"Grohmann","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0011","doi-asserted-by":"crossref","first-page":"11009","DOI":"10.1093\/nar\/gks792","article-title":"The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1","volume":"40","author":"Lim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2018.09.008_bib0012","doi-asserted-by":"crossref","first-page":"7831","DOI":"10.1073\/pnas.94.15.7831","article-title":"Association of the mammalian helicase MAH with the pre-mRNA splicing complex","volume":"94","author":"Molnar","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2018.09.008_bib0013","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1093\/hmg\/ddp134","article-title":"Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery","volume":"18","author":"de Planell-Saguer","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0014","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s00109-008-0402-7","article-title":"Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease","volume":"87","author":"Guenther","year":"2009","journal-title":"J Mol Med"},{"key":"10.1016\/j.nmd.2018.09.008_bib0015","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1093\/hmg\/ddp028","article-title":"IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)","volume":"18","author":"Guenther","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0016","doi-asserted-by":"crossref","unstructured":"Eckart M, Guenther UP, Idkowiak J, Varon R, Grolle B, Boffiet P, et al. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) Pediatrics. 2012;129: e148\u2013e156.","DOI":"10.1542\/peds.2011-0544"},{"key":"10.1016\/j.nmd.2018.09.008_bib0017","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.jns.2014.09.010","article-title":"The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type1: a systematic review","volume":"346","author":"Porro","year":"2014","journal-title":"J Neurol Sci"},{"issue":"10","key":"10.1016\/j.nmd.2018.09.008_bib0018","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1016\/j.nmd.2015.07.017","article-title":"Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2","volume":"25","author":"Wagner","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2018.09.008_bib0019","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1212\/WNL.0000000000001220","article-title":"Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy","volume":"84","author":"Schottmann","year":"2015","journal-title":"Neurol"},{"issue":"21","key":"10.1016\/j.nmd.2018.09.008_bib0020","doi-asserted-by":"crossref","first-page":"3179","DOI":"10.1093\/hmg\/ddi349","article-title":"Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival","volume":"14","author":"Maddatu","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2018.09.008_bib0021","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ejpn.2011.10.005","article-title":"Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature","volume":"16","author":"Messina","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2018.09.008_bib0022","first-page":"017","article-title":"Feeding Aversion in children with neurodisability and its assessment using CEBQ: a tertiary feeding clinic experience","volume":"3","author":"Kulshrestha","year":"2018","journal-title":"J Gastroenterol Hepatology Res"},{"issue":"5","key":"10.1016\/j.nmd.2018.09.008_bib0023","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.nmd.2011.02.005","article-title":"Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man","volume":"21","author":"Pierson","year":"2011","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618304474?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618304474?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:07:38Z","timestamp":1760774858000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896618304474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S0960896618304474"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2018.09.008","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2018.09.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2018 Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}