To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler.
SLC52A3
gene mutation
muscle weakness
riboflavin
whole genome sequencing
Journal
Child neurology open
ISSN: 2329-048X
Titre abrégé: Child Neurol Open
Pays: United States
ID NLM: 101691975
Informations de publication
Date de publication:
Historique:
received:
25
03
2021
revised:
07
06
2021
accepted:
16
06
2021
entrez:
16
8
2021
pubmed:
17
8
2021
medline:
17
8
2021
Statut:
epublish
Résumé
We present a case of a young child with a rare metabolic disorder whose clinical presentation resembled that of autoimmune myasthenia gravis. The differential diagnosis was expanded when autoantibody testing was negative and the patient did not respond to standard immunomodulatory therapies. Rapid whole genome sequencing identified 2 rare variants of uncertain significance in the
Identifiants
pubmed: 34395718
doi: 10.1177/2329048X211030723
pii: 10.1177_2329048X211030723
pmc: PMC8361551
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2329048X211030723Subventions
Organisme : NINDS NIH HHS
ID : R25 NS117367
Pays : United States
Informations de copyright
© The Author(s) 2021.
Déclaration de conflit d'intérêts
Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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