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Results 1 - 5 of 5 for Myopathy with tubular aggregates
  1. Tubular aggregate myopathy 
    ... the primary muscle cell abnormality in tubular aggregate myopathy. Tubular aggregate myopathy is a rare disorder. Its prevalence is ... Myopathy with tubular aggregates TAM Genetic Testing Registry: Myopathy, tubular aggregate, 1 Tubular aggregate myopathy National Organization for Rare ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  2. STIM1 gene 
    ... called platelets (thrombocytopenia) and consequent bleeding problems, a muscle disorder called tubular aggregate myopathy (described below), and other abnormalities. The mutation ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics
  3. 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
  4. Gyrate atrophy of the choroid and retina 
    ... 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
  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