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10 Possible Causes for Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy), Subsarcolemmal Accumulation of Normal Mitochondria

Did you mean: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy, Subsarcolemmal Accumulation of Normal Mitochondria

  • 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]

  • 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: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • 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: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • 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]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • 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]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • Genetic Recurrent Myoglobinuria

    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]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • Autosomal Dominant Myoglobinuria

    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]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • Congenital Myasthenic Syndrome 14

    April 06, 2015 ; 84 (14 Supplement) April 21, 2015 Jorge Bevilacqua , Marian Lara , Jorge Díaz , Ricardo Maselli First published April 8, 2015, Abstract OBJECTIVE: To describe the clinical features, the genetic findings and the underlying pathophysiology of a congenital myasthenic syndrome (CMS) in a Chilean family.[…][neurology.org]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • Progressive External Ophthalmoplegia - Myopathy - Emaciation Syndrome

    An electron microscopic study showed a prominent accumulation of ab- normal mitochondria in the subsarcolemmal regions.[docslide.com.br]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
  • Myopathy with Giant Abnormal Mitochondria

    SDH staining of muscle biopsy showed subsarcolemmal accumulation of abnormal mitochondria in 12 cases and 3-40% red ragged fibres on GMT staining in ten cases, while muscle[neurologyindia.com] […] biopsy was normal in the remaining two cases [Table II].[neurologyindia.com]

    Missing: Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)

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