{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:32:07Z","timestamp":1790649127928,"version":"4.1.0"},"reference-count":61,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,11,23]],"date-time":"2002-11-23T00:00:00Z","timestamp":1038009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2002,12]]},"abstract":"<jats:p><jats:bold>Abstract\u2003<\/jats:bold> Forty\u2010three cases of peripheral neuropathy (PN) have been reported in the literature with a proven mitochondria (mt) DNA mutation, and 21 had a peripheral nerve biopsy (PNB). We studied 8 patients, 1 of whom had severe sensory PN, 3 mild PN, and 4 subclinical PN. Nerve biopsy was performed in every case; all patients showed axonal degeneration and 4 showed features of primary myelin damage. In addition, there were 2 crystalline\u2010like inclusions in the Schwann cell cytoplasm of a patient with MERRF, and 1 in a patient with multiple deletions on the mtDNA. There are 11 cases of PNB in the literature with axonal lesions, 5 with demyelination, and 4 with mixed lesions. One PNB was not modified. A few crystalline\u2010like inclusions were seen in 1 case of MERRF. Such inclusions were first reported in the Schwann cell cytoplasm of unmyelinated fibers in a patient with Refsum disease and were considered to be modified mitochondria. However, their mitochondrial origin remains debatable.<\/jats:p>","DOI":"10.1046\/j.1529-8027.2002.02027.x","type":"journal-article","created":{"date-parts":[[2003,3,12]],"date-time":"2003-03-12T07:19:27Z","timestamp":1047453567000},"page":"213-220","source":"Crossref","is-referenced-by-count":49,"title":["Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature"],"prefix":"10.1111","volume":"7","author":[{"given":"S.","family":"Bouillot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Martin\u2010N\u00e9grier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vital","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Lagueny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Coquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Orgogozo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bloch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Vital","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,11,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.377"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1447"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170815"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00032-9"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000117420"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.10.1663"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430119"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90122-Z"},{"key":"e_1_2_6_10_1","first-page":"547","article-title":"Le MNGIE syndrome: deux cas dans une m\u00eame fratrie.","volume":"153","author":"Debouverie M","year":"1997","journal-title":"Rev Neurol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198511000-00003"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.1.239"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.5.1494"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196904000-00008"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.258"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090210"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.12.1545-a"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.4.721"},{"key":"e_1_2_6_19_1","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.","volume":"46","author":"Holt IJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.1.219"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1999.tb00670.x"},{"key":"e_1_2_6_22_1","first-page":"365","article-title":"Myopathie oculaire avec hypogonadisme primaire. 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