Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from oroling...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Ng, Andrew [verfasserIn]

Galosi, Serena [verfasserIn]

Salz, Lisa [verfasserIn]

Wong, Terence [verfasserIn]

Schwager, Caitlin [verfasserIn]

Amudhavalli, Shivarajan [verfasserIn]

Gelineau-Morel, Rose [verfasserIn]

Chowdhury, Shimul [verfasserIn]

Friedman, Jennifer [verfasserIn]

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2020

Schlagwörter:

KMT2B

Dystonia

Failure to thrive

Whole genome sequencing

Übergeordnetes Werk:

Enthalten in: BMC neurology - London : BioMed Central, 2001, 20(2020), 1 vom: 16. Juni

Übergeordnetes Werk:

volume:20 ; year:2020 ; number:1 ; day:16 ; month:06

Links:

Volltext

DOI / URN:

10.1186/s12883-020-01798-x

Katalog-ID:

SPR040048896

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