The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

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prefLabel

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

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P1476

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

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P2093

Ainhi D Ha

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Carolyn M Sue

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Dominic B Rowe

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Kaitlyn L Parratt

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Karl Ng

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Lisbeth Tranebjaerg

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Marianne Lodahl

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Michael W Hayes

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Nanna D Rendtorff

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Victor S C Fung

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P2860

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome

A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review.

Mitochondrial DNA disorders.

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

P304

1034-1040

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scholarly article

P356

10.1002/MDS.25033

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English

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P478

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P577

2012-06-26T00:00:00Z

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22736418

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