Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study

Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a...

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Bibliographic Details
Main Authors: Mohammed H. AlBanji, Abdulaziz N. AlSaad, Riyam F. AlAnazi, Zahra A. Aleisa, Dalya S. Alam, Aqeela H. Alhashim
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Central hypotonia
Peripheral hypotonia
Mixed hypotonia
Whole exome sequencing
MRI brain
Molecular genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301117

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http://www.sciencedirect.com/science/article/pii/S2214426920301117

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