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16 Possible Causes for Subsarcolemmal Accumulation of Normal Mitochondria, White Cell Cystine Increased

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com] […] myopathies ” below Diagnostics Genetic studies (including mitochondrial DNA ) Muscle biopsy : immunohistochemistry typically shows " ragged red fibers ", which are caused by subsarcolemmal[amboss.com]

  • Cystinosis

    Children with cystinosis also have an increased level of cystine in their white blood cells.[cystinosisresearch.org] Children with Cystinosis also have an increased level of cystine in their white blood cells.[jpfh.org] Children with cystinosis also have crystals in their eyes (after one year of age) and an increased level of cystine in their white blood cells.[cystinosisfoundation.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nephropathic Cystinosis

    English An earlier study treated 94 children with nephropathic cystinosis with increasing doses of cysteamine to attain white cell cystine levels of less than 2 nmol hemicystine[mymemory.translated.net]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Growth Failure

    He was noted to have a mild metabolic acidosis, generalised aminoaciduria and increased renal excretion of B2 Microglobulin. White cell cystine was normal.[bone-abstracts.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Ureterolithiasis

    Generally showed red blood cells, white blood cells and crystals (cystine, uric acid, calcium oxalate), as well as fragments, minerals, bacteria, pus, urine pH acidic (increase[duniamayadokter.blogspot.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Nephroblastoma

    English An earlier study treated 94 children with nephropathic cystinosis with increasing doses of cysteamine to attain white cell cystine levels of less than 2 nmol hemicystine[mymemory.translated.net]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Blepharoptosis

    English An earlier study treated 94 children with nephropathic cystinosis with increasing doses of cysteamine to attain white cell cystine levels of less than 2 nmol hemicystine[mymemory.translated.net]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • MELAS Syndrome

    Initially the muscle biopsy may show only muscle fibers with subsarcolemmal accumulation of mitochondria without typical RRF, but all patients with MELAS have RRF in the course[scielo.br] The biochemical analysis of respiratory chain complexes may be normal in some cases. WHAT ARE THE HISTOLOGICAL FEATURES?[scielo.br]

    Missing: White Cell Cystine Increased
  • Chronic Progressive External Ophthalmoplegia

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com] […] myopathies ” below Diagnostics Genetic studies (including mitochondrial DNA ) Muscle biopsy : immunohistochemistry typically shows " ragged red fibers ", which are caused by subsarcolemmal[amboss.com]

    Missing: White Cell Cystine Increased
  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] Mitochondria appeared to be of normal density with no demonstrable abnormal cristae pattern or intramitochondrial inclusions.[circ.ahajournals.org]

    Missing: White Cell Cystine Increased

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