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424 Possible Causes for Severe Mitochondrial Myopathy

  • Episodic Mitochondrial Myopathy - Optic Atrophy - Reversible Leukoencephalopathy

    These results demonstrate that CsA treatment is an efficient therapeutic strategy to slow the development of severe mitochondrial myopathy. The Author 2015.[ncbi.nlm.nih.gov] Mutations in mitochondrial tRNAs, rRNAs and protein-coding genes or large-scale rearrangements have been implicated in several cytopathies.[ncbi.nlm.nih.gov] There are several subcategories of mitochondrial myopathies.[en.wikipedia.org]

  • Polyneuropathy

    Association between mitochondrial dysfunction and severity and outcome of septic shock. Lancet. 2002;360(9328):219-23. 52. Mitch WE, Goldberg AL.[revistas.fucsalud.edu.co] Hyperpolarized shifts in the voltage dependence of fast inactivation of Nav1.4 and Nav1.5 in a rat model of critical illness myopathy.[revistas.fucsalud.edu.co]

  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    The early biopsy confirmed severe mitochondrial myopathy with RRF (A) and even more COX-negative fibres (B).[mafiadoc.com] […] benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase (COX) deficiency?.[researchperspectives.org] myopathy due to reversible cytochrome c oxidase (COX) deficiency”.[cordis.europa.eu]

  • Intestinal Pseudo-Obstruction

    MIM 155310 is a mostly severely debilitating disorder of enteric smooth muscle. Other forms of CIPO may occur as a consequence of mitochondrial disease (5).[journals.lww.com] Chronic intestinal pseudo-obstruction (CIPO), the nomenclature for which has included megacystis microcolon intestinal hypoperistalsis syndrome and hollow visceral myopathy[journals.lww.com]

  • Deafness

    Using whole-exome sequencing, we identified compound heterozygous RMND1 variants in a 4-year-old patient with congenital lactic acidosis, severe myopathy, hearing loss, renal[ncbi.nlm.nih.gov] The levels of mitochondrial ribosome proteins were reduced in patient fibroblasts, causing a translation defect, which was rescued by expression of the wild-type cDNA.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy Type 2B

    myopathy with severe neurological manifestations - (16.43) 12q22 * Cardiomyopathy, dilated, 1T - CMT1T (10.55) 3p21.3-p14.3 * Cardiomyopathy, dilated, 1Z - CMD1Z (10.12,[195.83.227.65] Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.107) 12q14.2 * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.36) 8q24.13 * Mitochondrial[195.83.227.65]

  • Mitochondrial DNA Depletion Syndrome

    The clinical symptoms of patient A included muscular weakness and exercise intolerance due to a severe mitochondrial myopathy associated with a 92% reduction in mtDNA.[ncbi.nlm.nih.gov] Further analysis later by Wang et al. identified one patient with MDS, muscular weakness, and exercise intolerance due to a severe mitochondrial myopathy that harbored the[ncbi.nlm.nih.gov] Mitochondrial myopathy – or mitochondrial disease – is an umbrella term for conditions caused by faulty mitochondria.[musculardystrophyuk.org]

  • Progressive Myoclonic Epilepsy Type 3

    Mitochondrial myopathies are a group of neurological and neuromuscular disorders that arise from genetic mutations affecting the function of intracellular (within the cell[rarediseases.org] EPM2A is one of the more severe forms of PME. EPM2A is an autosomal recessive genetic disorder caused by mutations in the EPM2A gene or NHLRC1 gene.[rarediseases.org]

  • Progressive Myoclonic Epilepsy Type 7

    Mitochondrial myopathies are a group of neurological and neuromuscular disorders that arise from genetic mutations affecting the function of intracellular (within the cell[rarediseases.org] EPM2A is one of the more severe forms of PME. EPM2A is an autosomal recessive genetic disorder caused by mutations in the EPM2A gene or NHLRC1 gene.[rarediseases.org]

  • Unverricht-Lundborg Syndrome

    Mitochondrial myopathies are a group of neurological and neuromuscular disorders that arise from genetic mutations affecting the function of intracellular (within the cell[rarediseases.org] EPM2A is one of the more severe forms of PME. EPM2A is an autosomal recessive genetic disorder caused by mutations in the EPM2A gene or NHLRC1 gene.[rarediseases.org]

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