{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T11:54:22Z","timestamp":1761393262564},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":4152,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 30\u2010year\u2010old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution. An electromyogram showed myotonic discharges in the paraspinous muscles, and a muscle biopsy revealed severe vacuolar myopathy. Biochemical analysis of muscle showed acid maltase deficiency. The patient's only brother had childhood\u2010onset acid maltase deficiency and died of respiratory failure at age 27. Acid maltase deficiency may have heterogeneous presentations within a family, and adult AMD can present as a scapuloperoneal neuromuscular syndrome. \u00a9 1993 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880160614","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:13:23Z","timestamp":1104567203000},"page":"672-676","source":"Crossref","is-referenced-by-count":53,"title":["Adult acid maltase deficiency"],"prefix":"10.1002","volume":"16","author":[{"given":"Richard J.","family":"Barohn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April L.","family":"McVey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Dimauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Griggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry R.","family":"Mendell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert G.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"issue":"2","key":"e_1_2_1_2_2","first-page":"154","article-title":"Late onset acid maltase deficiency with unusual familial features","volume":"33","author":"Danon MJ","year":"1983","journal-title":"Neurology"},{"key":"e_1_2_1_3_2","first-page":"1629","volume-title":"Myology: Basic and Clinical","author":"Engel AG","year":"1986"},{"key":"e_1_2_1_4_2","first-page":"45","article-title":"Adult and infantile glycogenosis type II in one family, explained by allelic diversity","volume":"46","author":"Hoefsloot LH","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010314"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1209"},{"key":"e_1_2_1_7_2","first-page":"1251","volume-title":"Myology: Basic and Clinical","author":"Munsat T","year":"1986"},{"key":"e_1_2_1_8_2","first-page":"271","article-title":"Forme myopathique du deficit an phosphofructokinase","volume":"120","author":"Serratrice G","year":"1969","journal-title":"Rev Neurol"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90041-1"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1979.tb00661.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880100311"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880160614","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880160614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T15:52:39Z","timestamp":1698249159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880160614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1002\/mus.880160614"],"URL":"https:\/\/doi.org\/10.1002\/mus.880160614","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}