Ullrich disease

Definition:

Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.

References:

[1]. A Nalini, et al. Ullrich congenital muscular dystrophy: report of nine cases from India. Neurol India. 2009 Jan-Feb;57(1):41-5. [Content Brief]

[2]. Naomi L Baker, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. [Content Brief]

[3]. Yaqun Zou, et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. [Content Brief]

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