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25 Possible Causes for Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions, Mutation in the CALM2 Gene

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] PhK deficiency is very complex and many genes play a key role in the GSD IX phenotype; the spectrum includes autosomal recessive forms of GSD IX (caused by mutations in PHKB[bmcmedgenet.biomedcentral.com] , PHKG1, PHKG2, CALM1, CALM2, and CALM3 ) as well as the X-linked liver form (caused by mutations in PHKA2 ) and X-linked muscle form (caused by mutations in PHKA1 ).[bmcmedgenet.biomedcentral.com]

  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][genome.jp]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    […] that have been discovered and only represent a small percentage of CPVT cases are TRDN (encoding triadin) and CALM1 (encoding calmodulin). 5,6 Mutations in the CALM2 gene[doi.org] Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations.[ncbi.nlm.nih.gov] Genetic variants of CPVT include RyR2 , CASQ2 , CALM2 , TRD , and possibly KCNJ2 and ANK2 gene mutations.[doi.org]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
  • Long QT Syndrome

    RESULTS: A novel de novo CALM2 mutation (D132H) was discovered by candidate gene screening in a male infant with prenatal bradycardia born to healthy parents.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] […] to selectively suppress the mutant gene while sparing the wild-type counterparts.[ncbi.nlm.nih.gov]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    RYR2, CASQ2, KCNJ2 , ANK2, CALM1, CALM2, TRDN, SCN5A* Other Panels that Include this Diagnosis Notes on Genes: Priority Genes: These genes include 70% of the mutations that[admerahealth.com]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
  • Ventricular Arrhythmia

    LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] LQT14LQT14 is caused by heterozygous mutations in the CALM1 (Calmodulin 1) gene (114180) on chromosome 14q32.[en.wikipedia.org] LQT16LQT16 is caused by heterozygous mutations in the CALM3 (Calmodulin 3) gene (114183) on chromosome 19q13. LQTS is classified a form of channelopathy.[en.wikipedia.org]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
  • Oculopharyngeal Muscular Dystrophy

    Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions.[ncbi.nlm.nih.gov] Abstract We report a family with a clinical diagnosis of oculopharyngeal muscular dystrophy in which muscle biopsy showed mitochondrial changes such as cytochrome-c-oxidase-negative[ncbi.nlm.nih.gov] Southern analysis of mitochondrial DNA obtained from muscle did not reveal mitochondrial gene deletions.[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene
  • Limb-Girdle Muscular Dystrophy

    , nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions.[ncbi.nlm.nih.gov] In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene
  • Chronic Progressive External Ophthalmoplegia

    The first muscle biopsy showed red-ragged fibers and cytochrome c oxidase negative fibers as well as inflammatory cells infiltration.[ncbi.nlm.nih.gov] Electron microscopy revealed paracrystalline inclusions. Mitochondrial genetic analysis demonstrated a large-scale mtDNA deletion of m.8470_13446del4977.[ncbi.nlm.nih.gov] […] report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptosis and limitation of eye movements manifested dysarthria, dysphagia and neck muscle[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene
  • Long QT Syndrome 13

    This prompted candidate-gene screening in a cohort of 82 LQTS genotype-negative patients. Two more patients were carriers of either CALM1 or CALM2 mutations.[smw.ch] By comparing the deoxyribonucleic acid (DNA) of the patients and of their parents we identified de-novo mutations in CALM1 and in CALM2.[smw.ch]

    Missing: Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions

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