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Attenuated forms with polyneuropathy have been reported combined with myoglobinuria or rhabdomyolysis as key features. We here report three young adults (two siblings) in which three variants in the <jats:italic>HADHB<\/jats:italic>\u2010gene were identified. All three cases had a similar mild phenotype with axonal neuropathy and frequent intermittent weakness episodes but without myoglobinuria. Special dietary precautions were recommended to minimize complications especially during infections and other catabolic states. MTP deficiency is therefore an important differential diagnosis in patients with milder fluctuating neuromuscular symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Take\u2010home message<\/jats:title><jats:p>Axonal neuropathy and recurrent muscular weakness without concomitant rhabdomyolysis may be due to MTP deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12276","type":"journal-article","created":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T08:39:48Z","timestamp":1646123988000},"page":"193-198","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel mutations in the <scp><i>HADHB<\/i><\/scp> gene causing a mild phenotype of mitochondrial trifunctional protein (<scp>MTP<\/scp>) deficiency"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7900-7093","authenticated-orcid":false,"given":"Kristin","family":"\u00d8rstavik","sequence":"first","affiliation":[{"name":"Department of Neurology, Section for Rare Neuromuscular disorders and EMAN Oslo University Hospital, Rikshospitalet  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kjell Arne","family":"Arntzen","sequence":"additional","affiliation":[{"name":"National Neuromuscular Centre Norway and Department of Neurology University Hospital of North Norway  Troms\u00f8 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Mathisen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Oslo University Hospital, Rikshospitalet  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul Hoff","family":"Backe","sequence":"additional","affiliation":[{"name":"Department of Microbiology 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