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616 Possible Causes for Tubular Aggregates

  • Tubular Aggregate Myopathy

    We report a case of congenital tubular aggregate myopathy associated with retinal degeneration.[ncbi.nlm.nih.gov] We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle[ncbi.nlm.nih.gov] The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Muscle biopsy revealed subsarcolemmal collections suggestive of tubular aggregates. Phosphoglycerate mutase activity was 8% of the reference value.[ncbi.nlm.nih.gov] Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients.[ncbi.nlm.nih.gov] An unusual pathologic feature of PGAM deficiency is the association with tubular aggregates.[experts.umich.edu]

  • Secondary Myopathy

    Histologically, it is characterized by tubular aggregates in muscle fibers.[journals.plos.org] aggregates ; Cores Succinate dehydrogenase (SDH) Mitochondrial pathology Nuclear DNA encoded complex Cytochrome oxidase (COX) Mitochondrial pathology Mitochondrial & Nuclear[neuromuscular.wustl.edu] aggregates Macrophagic myofaciitis Vasculitis related myopathy Eosinophilic myositis and Eosinophilic faciitis Hypokalemic periodic paralysis Hyperkalemic periodic paralysis[learningneurology.com]

  • Zebra Body Myopathy

    NCL-Curvilineair bodies Nemalin rod-1 Nemalin rod-2 Redundant basal membrane Rimmed vacuoles Semithin section abnormal mitochondria Triad TRS tubuloreticular structures Tubular[radboudumc.nl] […] core disease Centronuclear myopathy Congenital fiber type disporportion Core rod myopathy Hyaline body myopathy Multiminicore myopathy Myotubular myopathy Nemaline myopathy Tubular[treat-nmd.eu] Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy For more[mdi.ie]

  • Renal Colic

    It may travel down into the ureters, the tubular structures that carry urine from the kidneys to the bladder.[healthitalk.com] These stones are made up of aggregates of crystals and may be of different types, of which calcium oxalate and phosphate stones seem to be most common.[healthitalk.com]

  • Familial Hypercholesterolemia

    aggregate 3 Myopathy, X-Linked, With Postural Muscle Atrophy 3 Myopia, High, with Cataract And Vitreoretinal Degeneration 1 Myotilinopathy 4 Myotonia Congenita Autosomal[preventiongenetics.com] aggregates 2 3 Myelodysplastic Syndrome 1 Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to 2 Myh-Associated Polyposis 8 Myhre[preventiongenetics.com] Aggregates 1 Myasthenic Syndrome, Congenital, 18 3 Myasthenic Syndrome, Congenital, 19 1 Myasthenic Syndrome, Congenital, 2A, Slow-Channel 1 Myasthenic Syndrome, Congenital[preventiongenetics.com]

  • Nephrolithiasis

    Crystalline aggregates can grow free in the tubular lumen or coated on the wall of the renal tubule.[f1000research.com] The phenomenon could start with crystalline aggregates free in the tubular lumen (free particle theory) or coated on the wall of the tubule (fixed particle theory).[f1000research.com] […] of crystals that might get trapped in the tubular lumen and begin the process of stone formation.[f1000research.com]

  • Familial Periodic Paralysis

    No tubular aggregates could be found. The nerve bundles were normal.[ncbi.nlm.nih.gov] Muscle biopsy analysis showed typical tubular aggregates representing sarcolemmal and T-tubular changes ( 1 ).[jci.org] aggregates Vacuoles Muscle fibers contain increased Na & reduced K Historical Elizabeth Barrett Browning: May have had Hypokalemic periodic paralysis 13 Hypokalemic periodic[neuromuscular.wustl.edu]

  • Urolithiasis

    . • However, if enough nuclei form and grow, aggregation of the crystals will form larger particles within minutes that can occlude the tubular lumen. • Inhibitors can prevent[de.slideshare.net] […] the process of crystal growth or aggregation. 31.[de.slideshare.net] . • Within the timeframe of transit of urine through the nephron, estimated at 5 to 7 minutes, crystals cannot grow to reach a size sufficient to occlude the tubular lumen[de.slideshare.net]

  • Polyglucosan Body Myopathy Type 2

    Type 1 or 2 fiber atrophy ATPase pH 4.6 Type 2B muscle fibers ATPase pH 4.3 Type 2C (Immature) muscle fibers Enzymes: Oxidative NADH-TR Muscle fiber internal architecture; Tubular[grants.hhp.uh.edu] aggregate, 1, 160565 CHCHD10 Myopathy,isolated mitochondrial,autosomal dominant,616209 ORAI1 Myopathy,tubular aggregate, 2,615883 CASQ1 Myopathy,vacuolar,with CASQ1 aggregates[gsdseq.ir] Additional novel findings include the involvement of the heart in one patient with phosphofructokinase (PFK) deficiency and the presence of tubular aggregates in a manifesting[journals.lww.com]

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