Universität zu Köln

Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. Eur. J. Med. Genet., 64 (2). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Full text not available from this repository.

Abstract

DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date. DNM1L-related sensory neuropathy has recently been reported as a predominant feature in one case with a de novo variant in the GTPase domain. Herein we present a second case with DNM1L-related sensory neuropathy as the predominant underlying feature without motor neuron involvement, which resulted in severe muscular atrophy and generalized dystonia.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Keller, Natalie UNSPECIFIED UNSPECIFIED UNSPECIFIED Paketci, Cem UNSPECIFIED UNSPECIFIED UNSPECIFIED Edem, Pinar UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED Karakaya, Mert UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-573652
DOI:	10.1016/j.ejmg.2020.104134
Journal or Publication Title:	Eur. J. Med. Genet.
Volume:	64
Number:	2
Date:	2021
Publisher:	ELSEVIER
Place of Publication:	AMSTERDAM
ISSN:	1878-0849
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/57365