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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.[] 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[] The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres.[]

  • 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.[] Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients.[] An unusual pathologic feature of PGAM deficiency is the association with tubular aggregates.[]

  • Secondary Myopathy

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

  • 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[] […] core disease Centronuclear myopathy Congenital fiber type disporportion Core rod myopathy Hyaline body myopathy Multiminicore myopathy Myotubular myopathy Nemaline myopathy Tubular[] Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy For more[]

  • Renal Colic

    It may travel down into the ureters, the tubular structures that carry urine from the kidneys to the bladder.[] 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.[]

  • 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[] aggregates 2 3 Myelodysplastic Syndrome 1 Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to 2 Myh-Associated Polyposis 8 Myhre[] Aggregates 1 Myasthenic Syndrome, Congenital, 18 3 Myasthenic Syndrome, Congenital, 19 1 Myasthenic Syndrome, Congenital, 2A, Slow-Channel 1 Myasthenic Syndrome, Congenital[]

  • Nephrolithiasis

    Crystalline aggregates can grow free in the tubular lumen or coated on the wall of the renal tubule.[] 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).[] […] of crystals that might get trapped in the tubular lumen and begin the process of stone formation.[]

  • Familial Periodic Paralysis

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

  • 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[] […] the process of crystal growth or aggregation. 31.[] . • 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[]

  • 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[] aggregate, 1, 160565 CHCHD10 Myopathy,isolated mitochondrial,autosomal dominant,616209 ORAI1 Myopathy,tubular aggregate, 2,615883 CASQ1 Myopathy,vacuolar,with CASQ1 aggregates[] 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[]

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