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GENATLAS PHENOTYPE

last update : 30-06-2015

Symbol	DYT27
Location	2q37.3
Name	dystonia 27
Corresponding gene	COL6A3
Main clinical features	onset of segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs at age 20 years dystonic action and postural tremor, writer's cramp, oromandibular dystonia, and laryngeal dystonia isolated dystonia with underlying neurodevelopmental deficits
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

mutation in exon 41, in all families, suggesting that perturbation of this specific region might be necessary to develop isolated dystonia (PMID: 26004199))