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Review

Congenital Myasthenic Syndromes Overview

Angela Abicht  1 , Juliane S Müller  2 , Hanns Lochmüller  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Congenital Myasthenic Syndromes Overview

Angela Abicht et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of CMS;

  2. 2

    Review the subtypes and genetic causes of CMS;

  3. 3

    Review the differential diagnosis of CMS;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of CMS in a proband;

  5. 5

    Review management of CMS following diagnosis: evaluations, treatment (based on genetic cause when possible) and surveillance;

  6. 6

    Inform genetic counseling of family members of a proband with CMS.

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References

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