A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.

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Title: A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.
Authors: Dupic, A.1 (AUTHOR) alexandra.dupic@aphp.fr, Evangelista, T.2 (AUTHOR), Labella, B.2 (AUTHOR), Gaignard, P.3 (AUTHOR), Becker, PH.3 (AUTHOR), Turmel, H.1 (AUTHOR), Konyukh, M.4,5 (AUTHOR), Masingue, M.1 (AUTHOR)
Source: Neuromuscular Disorders. Jul2026, Vol. 64, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
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Header DbId: asn
DbLabel: Academic Search Ultimate
An: 195251524
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.
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  Data: <searchLink fieldCode="AR" term="%22Dupic%2C+A%2E%22">Dupic, A.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> alexandra.dupic@aphp.fr</i><br /><searchLink fieldCode="AR" term="%22Evangelista%2C+T%2E%22">Evangelista, T.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Labella%2C+B%2E%22">Labella, B.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gaignard%2C+P%2E%22">Gaignard, P.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Becker%2C+PH%2E%22">Becker, PH.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Turmel%2C+H%2E%22">Turmel, H.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Konyukh%2C+M%2E%22">Konyukh, M.</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Masingue%2C+M%2E%22">Masingue, M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neuromuscular+Disorders%22">Neuromuscular Disorders</searchLink>. Jul2026, Vol. 64, pN.PAG-N.PAG. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=195251524
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.nmd.2026.106442
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 1
        StartPage: N.PAG
    Titles:
      – TitleFull: A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Dupic, A.
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          Name:
            NameFull: Evangelista, T.
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            NameFull: Labella, B.
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            NameFull: Gaignard, P.
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            NameFull: Becker, PH.
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            NameFull: Turmel, H.
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            NameFull: Konyukh, M.
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            NameFull: Masingue, M.
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          Dates:
            – D: 01
              M: 07
              Text: Jul2026
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 09608966
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            – Type: volume
              Value: 64
          Titles:
            – TitleFull: Neuromuscular Disorders
              Type: main
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