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Chapter 30 - Metabolic Movement Disorders in the Era of Next-Generation Sequencing

from Section III - Conclusions and Future Directions

Published online by Cambridge University Press:  24 September 2020

By
Fatima Y. Ismail ,
Mohammed Almuqbil  and
Ali Fatemi
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Suspecting a genetic etiology for movement disorders of childhood often requires a high index of suspicion due to the heterogenous phenotypic expression, variable penetrance, and the influence of epigenetic modifiers that are largely unknown.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 365 - 374
Publisher: Cambridge University Press
Print publication year: 2020

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