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Article

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.

Movement disorders : official journal of the Movement Disorder Society - 15 Jul 2007

Kim Hee T, Edwards Mark J, Tyson Jess, Quinn Niall P, Bitner-Glindzicz Maria, Bhatia Kailash P

Abstract excerpt

Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and blindness. It is due to mutations in the deafness/dystonia peptide (DDP1) gene. We describe a sporadic 42-year-old man with MTS presenting...

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Source

Identifiers

PMID: 17534980
DOI: 10.1002/mds.21351

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17534980-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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