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Article

Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

Neurology - 31 Jul 2012

Stamelou Maria, Mencacci Niccolo E, Cordivari Carla, Batla Amit, Wood Nick W, Houlden Henry, Hardy John, Bhatia Kailash P

Abstract excerpt

OBJECTIVE: To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder. METHODS: We performed...

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Identifiers

PMID: 22815559
DOI: 10.1212/WNL.0b013e318261714a
PMCID: PMC3405253

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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