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Patients usually develop various combinations of nonspherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, we recorded all known French patients with PGK deficiency, and 3 unrelated patients were identified. Case 1 was a 32\u2010year\u2010old patient with severe chronic axonal sensorimotor polyneuropathy resembling Charcot\u2013Marie\u2013Tooth (CMT) disease, mental retardation, microcephaly, ophthalmoplegia, pes cavus, and the new c.323G\u2009&gt;\u2009A <jats:italic>PGK1<\/jats:italic> hemizygous mutation. Case 2 was a 71\u2010year\u2010old patient with recurrent exertional rhabdomyolysis, and a c.943G\u2009&gt;\u2009A <jats:italic>PGK1<\/jats:italic> hemizygous mutation. Case 3 was a 48\u2010year\u2010old patient with NSHA, retinitis pigmentosa, mental retardation, seizures, stroke, parkinsonism, and a c.491A\u2009&gt;\u2009T <jats:italic>PGK1<\/jats:italic> hemizygous mutation. This study confirms that PGK deficiency is an extremely rare disorder with a wide phenotypic spectrum, and demonstrates for the first time that PGK deficiency may affect the peripheral nervous system and present as a CMT\u2010like disorder.<\/jats:p>","DOI":"10.1002\/jimd.12087","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T01:19:31Z","timestamp":1553044771000},"page":"803-808","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1012-9783","authenticated-orcid":false,"given":"Andoni","family":"Echaniz\u2010Laguna","sequence":"first","affiliation":[{"name":"Department of Neurology APHP, Bic\u00eatre University Hospital  Le Kremlin Bic\u00eatre France"},{"name":"French National Reference Center for Rare Neuropathies (NNERF)  Le Kremlin Bic\u00eatre France"},{"name":"INSERM U1195 &amp; Paris\u2010Sud University  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"Neurology Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"B\u00e9hin","sequence":"additional","affiliation":[{"name":"Neurology Department H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[{"name":"Laboratoire Diagnostic G\u00e9n\u00e9tique, CHR  Strasbourg France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg Universit\u00e9 de Strasbourg  Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Piraud","sequence":"additional","affiliation":[{"name":"Laboratoire des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et d\u00e9pistage N\u00e9onatal, Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Neurology Department H\u00f4pital Raymond Poincar\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Neurology Department H\u00f4pital Raymond Poincar\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.75"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.12.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032065"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.11.008"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.05.015"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21612"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006165"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41531-017-0014-4"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12055"},{"key":"e_1_2_8_11_1","first-page":"280","volume-title":"Methods of Enzymatic Analysis","author":"Bergmeyer HU","year":"1983"},{"key":"e_1_2_8_12_1","unstructured":"J. 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