{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:06:23Z","timestamp":1792098383661,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,11]],"date-time":"2017-04-11T00:00:00Z","timestamp":1491868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. <jats:italic>Methods<\/jats:italic>: We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease\u2010causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. <jats:italic>Results<\/jats:italic>: We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult\u2010onset Pompe disease, myofibrillar myopathy, multi\u2010minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. <jats:italic>Conclusion<\/jats:italic>: We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>56<\/jats:bold>: 881\u2013886, 2017<\/jats:p>","DOI":"10.1002\/mus.25602","type":"journal-article","created":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T08:42:47Z","timestamp":1486629767000},"page":"881-886","source":"Crossref","is-referenced-by-count":30,"title":["Hereditary myopathies with early respiratory insufficiency in adults"],"prefix":"10.1002","volume":"56","author":[{"given":"Elie","family":"Naddaf","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW, Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW, Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21234"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.1207"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307447"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24899"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00125-X"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-35"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7664-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.01.013"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2013.07.002"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24620"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6636-x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10354-012-0153-5"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00408-013-9489-x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90134-9"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm039"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1258\/shorts.2011.011096"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.05.002"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm271"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws102"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws103"},{"key":"e_1_2_7_24_1","first-page":"460","article-title":"[Familial myopathy with \u201ccytoplasmic body\u201d (or \u201cspheroid\u201d) type inclusions, disclosed by respiratory insufficiency]","volume":"145","author":"Chapon F","year":"1989","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304728"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-31"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.995"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25054"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1658"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.01.011"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa062800"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.101.3.824"},{"key":"e_1_2_7_33_1","first-page":"467","article-title":"Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation","volume":"97","author":"Amornvit J","year":"2014","journal-title":"J Med Assoc Thai"},{"key":"e_1_2_7_34_1","first-page":"715","article-title":"Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene","volume":"97","author":"Yang CC","year":"1998","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.12.009"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl071"}],"container-title":["Muscle &amp; 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