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Beyond Borders: Myotonic Dystrophies - A European Perception

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Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted
repeat disorders affect multiple organs of the human body at all ages—from the newborns to
the elderly. DMs are highly inconsistent in terms of age at onset, severity of symptoms, and
clinical patterns. Even within families, the onset and pattern of organ involvement remains
enigmatic. Anticipation, with aggravation of the disease severity and earlier age at onset through
successive generations, is particularly evident in DM1 that can affect adults and children at
birth or during childhood 26 years ago, the identification of the DM1 repeat mutation in the
DMPK gene on chromosome 19 opened the box for these diseases

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Publisher

: Frontiers Media SA., 2019

Collation

148

Language

English

ISBN/ISSN

9782889457090

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NONE

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text

Media Type

computer

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online resource

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Subject(s)

Myotonic Dystrophies
A European Perception

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Angga

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https://www.frontiersin.org/research-topics/6667/beyond-borders-myotonic-dystrophies---a-european-perception

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