Tubular aggregate myopathy
Definition:
References:
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[1]. Johann Böhm, et al. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. J Med Genet. 2014 Dec;51(12):824-33. [Content Brief]
[2]. Vasyl Nesin, et al. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. [Content Brief]
[3]. Yukari Endo, et al. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. Hum Mol Genet. 2015 Feb 1;24(3):637-48. [Content Brief]
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