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10 Possible Causes for Myopathy, 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] Abstract Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare neurodegenerative disease caused by the decreased ability[ncbi.nlm.nih.gov] MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the classic mitochondrial encephalomyopathies with variable clinical[ncbi.nlm.nih.gov]

  • Chronic Progressive External Ophthalmoplegia

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Here, we report a patient with chronic progressive external ophthalmoplegia complicated with inflammatory myopathy and after treated with prednisone as myositis, he had a[ncbi.nlm.nih.gov] In conclusion, mitochondrial myopathy was definitely diagnosed.[ncbi.nlm.nih.gov]

  • Carnitine Transporter Deficiency

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] There is lipid myopathy with microvesicular lipid accumulation found in the muscle and liver as well as elevated liver transaminases and hyperammonemia.[orpha.net] Early diagnosis and treatment with high-dose oral primary carnitine supplementation is critical and lifesaving and reverses the end-stage cardiomyopathy, myopathy, and episodes[medlink.com]

  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] Danon disease and X-linked myopathy with excessive autophagy.[ncbi.nlm.nih.gov] ., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Myoglobinuria

    In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] Elsevier Health Sciences, ٢٣‏/٠٧‏/٢٠١٤ - 14 من الصفحات Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies[books.google.com] 359.5 Endocrine myopathy 359.6 Inflammatory myopathy in other diseases 359.8 Other myopathies 359.9 Myopathy, unspecified 710.3 Dermatomyositis 710.4 Polymyositis ICD-10[clinicalgate.com]

  • Genetic Recurrent Myoglobinuria

    An increased immunoreactivity in the subsarcolemmal zone owing to the accumulation of mitochondria was observed (fig 2G).[jmg.bmj.com] Mitochondrial Myopathies Mitochondrial myopathies are emerging as a more frequent cause of metabolic myopathy than previously recognized.[the-rheumatologist.org] Episodes of rhabdomyolysis usually occur when a person with a metabolic myopathy “overdoes it” (sometimes unknowingly).[mda.org]

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Adults with cystinosis develop pulmonary dysfunction, diabetes, muscle weakness, myopathy, and vascular calcification, although good adherence to treatment lessens the likelihood[raredr.com] […] storage does not occur in the donor kidney, but continued accumulation in the host tissue can result in retinal blindness, corneal erosions, diabetes mellitus, a distal myopathy[ommbid.mhmedical.com]

  • Congenital Myasthenic Syndrome 14

    E-2529 149 Metabolic Myopathies E-2547 150 Inflammatory Myopathies E-2595 151 Channelopathies E-2605 152 Management of Children with Neuromuscular Disorders E-2626 153 Endocrine[books.google.de] .  Presents with progressive myopathy, associated with myasthenic syndrome (involving facial, limb and oculomotor muscles), and epidermolysis bullosa 20.  Presents since[slideshare.net] […] myasthenic syndromes, agrin deficiency, ALG2 and ALG14 deficiency, choline acetyltransferase deficiency, choline transporter, collagen 13A1 related myasthenia, congenital myopathies[medlink.com]

  • 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] A third myopathy in a child with hypotonia and proximal weakness is reported.[ncbi.nlm.nih.gov] […] and diagnose myopathy.[patient.info]

  • 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] Mitochondrial myopathy with progressive decrease in mitochondrial tRNAk"'"UR' mutant genomes.[documents.tips] Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Myopathy and diabetes mellitus Pure mitochondrial myopathy MELAS syndrome MERRF syndrome NARP syndrome[repository.innermed.eu]

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