{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:59:08Z","timestamp":1759694348967,"version":"3.40.4"},"reference-count":5,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Charcot\u2013Marie tooth disease (CMT) is a heterogenous group of peripheral neuropathies caused by various genetic defects. Three cases of mitochondrial myopathy, neuropathy and gastrointestinal encephalopathy (MNGIE) which initially presented with a peripheral neuropathy resembling CMT are described here. The diagnosis in all three cases was made after they developed eye signs and abdominal complaints. Young patients with mutation negative CMT should be followed up to monitor for signs of MNGIE.<\/jats:p>","DOI":"10.1136\/bcr.06.2009.2001","type":"journal-article","created":{"date-parts":[[2009,7,3]],"date-time":"2009-07-03T02:58:15Z","timestamp":1246589895000},"page":"bcr0620092001","source":"Crossref","is-referenced-by-count":2,"title":["Mitochondrial disease mimicking Charcot\u2013Marie Tooth disease: Table 1"],"prefix":"10.1136","volume":"2009","author":[{"given":"M","family":"Needham","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Duley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Hammond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G K","family":"Herkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C M","family":"Sue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2009,7,2]]},"reference":[{"key":"2025042508044455000_2009.jul02_1.bcr0620092001.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170602"},{"key":"2025042508044455000_2009.jul02_1.bcr0620092001.2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200211"},{"key":"2025042508044455000_2009.jul02_1.bcr0620092001.3","first-page":"501","article-title":"Peripheral neuropathy of mitochondrial myopathies","volume":"147","author":"Mizusawa","year":"1991","journal-title":"Rev Neurol"},{"key":"2025042508044455000_2009.jul02_1.bcr0620092001.4","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10546"},{"key":"2025042508044455000_2009.jul02_1.bcr0620092001.5","first-page":"489","article-title":"Clinical and electrophysiological studies of a family with probable x-linked dominant Charcot-Marie-Tooth neuropathy and ptosis","volume":"27","author":"Wu","year":"2004","journal-title":"Chang Gung Med J"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.06.2009.2001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T15:04:53Z","timestamp":1745593493000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.06.2009.2001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":5,"alternative-id":["10.1136\/bcr.06.2009.2001"],"URL":"https:\/\/doi.org\/10.1136\/bcr.06.2009.2001","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2009]]}}}