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29 Possible Causes for Muscle Biopsy: Lipid Deposition, Subsarcolemmal Accumulation of Normal Mitochondria

  • Carnitine Transporter Deficiency

    […] 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]

  • MELAS Syndrome

    Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243.[ncbi.nlm.nih.gov] 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]

  • Genetic Recurrent Myoglobinuria

    In the neonatal and adult onset forms, the muscle biopsy specimens exhibit excess lipid deposition in type I fibers along with reduced carnitine content ( 67, 70, 71 ).[annalsofneurosciences.org] An increased immunoreactivity in the subsarcolemmal zone owing to the accumulation of mitochondria was observed (fig 2G).[jmg.bmj.com] […] encoded subunits II/III showed a virtual absence of immunoreactivity (fig 2F) when compared to control muscle (fig 2E), whereas the nuclearly encoded subunit IV showed a normal[jmg.bmj.com]

  • Autosomal Dominant Myoglobinuria

    In the neonatal and adult onset forms, the muscle biopsy specimens exhibit excess lipid deposition in type I fibers along with reduced carnitine content ( 67, 70, 71 ).[annalsofneurosciences.org] In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] Reduced COX staining can be seen in both ragged red and otherwise normal-appearing muscle fibers.[neupsykey.com]

  • Secondary Myopathy

    In the neonatal and adult onset forms, the muscle biopsy specimens exhibit excess lipid deposition in type I fibers along with reduced carnitine content ( 67, 70, 71 ).[annalsofneurosciences.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Acquired Amyloid Myopathy

    Pathology: Light microscopic examination of the muscle biopsy specimen may demonstrate lipid deposition (shown on oil red O stain) in lipid storage myopathies.[rheumaknowledgy.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • 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: Muscle Biopsy: Lipid Deposition
  • 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: Muscle Biopsy: Lipid Deposition
  • Carnitine Deficiency

    Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres.[ncbi.nlm.nih.gov] Abstract We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Polyglucosan Body Myopathy Type 2

    In the neonatal and adult onset forms, the muscle biopsy specimens exhibit excess lipid deposition in type I fibers along with reduced carnitine content ( 67, 70, 71 ).[annalsofneurosciences.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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