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Results 1 - 5 of 5 for "Myopathy," tubular "aggregate," 1
  1. Tubular aggregate myopathy 
    ... Myopathy with tubular aggregates TAM Genetic Testing Registry: Myopathy, tubular aggregate, 1 Tubular aggregate myopathy National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  2. Gyrate atrophy of the choroid and retina 
    ... 673-9. doi: 10.1007/s10545-005-0074-1. Citation on PubMed Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C, Warter JM. Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  3. STIM1 gene 
    ... TAM1 Tests of STIM1 ... B, Bartoli M, Laporte J. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013 Feb 7;92( ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  4. Stormorken syndrome 
    ... bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  5. Phosphoglycerate mutase deficiency 
    ... phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of ...
    https://medlineplus.gov/.../phosphoglycerate-mutase-deficiency - Genetics