Emery-dreifuss Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/emery-dreyfuss-muskeldystrofi
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    Emery-Dreyfuss muskeldystrofi er en av flere sjeldne, arvelige muskeldystrofier som først og fremst rammer gutter. Den er sakte fremadskridende og starter ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/differentials
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    ... relevant gene with DNA analysis confirms the diagnosis. Emery-Dreifuss muscular dystrophy SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Musculotendinous ...
  3. nokc-helsebiblioteket-collection
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    https://www.helsebiblioteket.no/...ing-ved-genetiske-muskelsykdommer
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    ... muskeldystrofi Dystrofin Dilatert Overlednings-forstyrrelser Som ved DMD Emery-Dreifuss autosomal dominant eller Limb-girdle muskeldystrofi 1B Lamin ... død Atrieflimmer eller -flutter, atrial inaktivitet. Ventrikulære arytmier. Emery-Dreifuss X-bundet (økt risiko også hos kvinnelig mutasjonsbærer) ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/pdf/969.pdf
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    ... fetal transmission results in the remaining two-thirds. Emery-Dreifuss and limb-girdle muscular dystrophies can be confused with DMD. • Emery-Dreifuss muscular dystrophy is caused by a defect at ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969/pdf/969.pdf
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    ... fetal transmission results in the remaining two-thirds. Emery-Dreifuss and limb-girdle muscular dystrophies can be confused with DMD. • Emery-Dreifuss muscular dystrophy is caused by a defect at ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/aetiology
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    ... fetal transmission results in the remaining two-thirds. Emery-Dreifuss and limb-girdle muscular dystrophies can be confused with DMD. Emery-Dreifuss muscular dystrophy is caused by a defect at ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969/aetiology
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    ... fetal transmission results in the remaining two-thirds. Emery-Dreifuss and limb-girdle muscular dystrophies can be confused with DMD. Emery-Dreifuss muscular dystrophy is caused by a defect at ...
  8. Frambu
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    www.frambu.no/diagnoser
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    ... IV 22q11 delesjon Kongenitt nevronal ceroid lipofuscinose DM2 Emery-Dreifuss muskeldystrofi Nevromuskulære sykdommer Kallmanns syndrom Cerebral ALD Smith- ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/371/pdf/371.pdf
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    ... Friedreich's ataxia, muscular dystrophies (Duchenne, Becker, and Emery-Dreifuss muscular dystrophy; myotonic dystrophy) can present with cardiac ... lentiginosis, Friedreich's ataxia, Duchenne/Becker muscular dystrophy, Emery-Dreifuss ... dystrophy, neurofibromatosis, and tuberous sclerosis. [ ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/diagnosis-approach
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    ... many patients with limb-girdle muscular dystrophy or Emery-Dreifuss muscular dystrophy, and, to a lesser degree, for ... New York, NY: McGraw-Hill; 2008. Emerin for Emery-Dreifuss muscular dystrophy Desmin/myotillin/Z-band alternatively spliced ...
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