"myotonia congenita" or "becker muscular dystrophy" Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/differentials
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    ... leaflets Procedural videos Evidence Drugs Differentials VIEW ALL  Becker muscular dystrophy SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Signs and symptoms ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969/guidelines
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    ... health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics. 2005;116:1569-1573. http://pediatrics.aappublications. ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/569/differentials
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    ... prolonged. Multiple sclerosis Dystrophinopathies (e.g., Duchenne or Becker muscular dystrophy) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS May be a ... fibers in groups. Dystrophinopathies (e.g., Duchenne or Becker muscular ... dystrophies SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Myotonia ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/pdf/969.pdf
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    ... muscle biopsy. Other X-linked muscular dystrophies include Becker muscular dystrophy (BMD), which is characterised by diminished quantity or quality of dystrophin in muscle biopsy specimens. Becker muscular dystrophy is a milder form of DMD. Diagnosis can ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969/pdf/969.pdf
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    ... muscle biopsy. Other X-linked muscular dystrophies include Becker muscular dystrophy (BMD), which is characterized by diminished quantity or quality of dystrophin in muscle biopsy specimens. Becker muscular dystrophy is a milder form of DMD. Diagnosis can ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969/history-exam
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    ... mutations. male gender Because inheritance of Duchenne and Becker muscular dystrophies is X-linked, the overwhelming majority of patients are male. Female carriers of DMD or Becker muscular dystrophy typically have no symptoms or signs, but some ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969
    /
    ... muscle biopsy. Other X-linked muscular dystrophies include Becker muscular dystrophy (BMD), which is characterised by diminished quantity or quality of dystrophin in muscle biopsy specimens. Becker muscular dystrophy is a milder form of DMD. Diagnosis can ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/969
    /
    ... muscle biopsy. Other X-linked muscular dystrophies include Becker muscular dystrophy (BMD), which is characterized by diminished quantity or quality of dystrophin in muscle biopsy specimens. Becker muscular dystrophy is a milder form of DMD. Diagnosis can ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/569/pdf/569.pdf
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    ... potentials are prolonged. Dystrophinopathies (e.g., Duchenne or Becker muscular dystrophy) • May be a family history of the condition. • ... acanthosis nigricans, and acral hypertrophy; tocainide[ 132] in myotonia congenita and myotonic dystrophy (although this drug is no ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/969/aetiology
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    ... by a different gene deletion or mutation. Duchenne/Becker muscular dystrophies are caused by a mutation of the dystrophin ... Pathophysiology The Xp21 defect or deletion in Duchenne/Becker muscular dystrophies results in the absence of the specific 427- ...
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