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Title:

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Document type:
Journal Article; Article
Author(s):
Simons, Cas; Dyment, David; Bent, Stephen J; Crawford, Joanna; D'Hooghe, Marc; Kohlschütter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J; van der Knaap, Marjo S; Wolf, Nicole I
Abstract:
Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.(Asp252Asn), in TMEM106B. The mutation was confirmed as de novo in three of the cases, and the mildly affected father o...     »
Journal title abbreviation:
Brain
Year:
2017
Journal volume:
140
Journal issue:
12
Pages contribution:
3105-3111
Language:
eng
Fulltext / DOI:
doi:10.1093/brain/awx314
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29186371
Print-ISSN:
0006-8950
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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