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(rippling muscle disease)
82 results
  • Peripheral nerve hyperexcitability. [Journal Article]
    Handb Clin Neurol 2019; 161:281-290Katirji B
  • Neuromyotonic and myokymic discharges are abnormal electrical muscular discharges caused by ectopic discharges from motor axons and represent the hallmarks of peripheral nerve hyperexcitability. Neuromyotonic discharges are specific for peripheral nerve hyperexcitability syndromes, whereas myokymic discharges may occur either focally or in a more generalized fashion in many other peripheral nerve…
  • Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. [Case Reports]
    Brain Dev 2019; 41(5):474-479Hiraide T, Ogata T, … Saitsu H
  • Whole-exome sequencing (WES) can comprehensively detect both pathogenic single nucleotide variants and copy number variants, enabling identification of a coexistence of two or more genetic etiologies. Here we report a family consisting of individuals with Becker muscular dystrophy and rippling muscle disease. The proband, a 12-year-old boy, was diagnosed with Becker muscular dystrophy with exon 4…
  • Characteristic findings of skeletal muscle MRI in caveolinopathies. [Journal Article]
    Neuromuscul Disord 2018; 28(10):857-862Ishiguro K, Nakayama T, … Ishigaki K
  • Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patien…
  • Immune-mediated rippling muscle disease and myasthenia gravis. [Case Reports]
    J Neuroimmunol 2016; 299:59-61Bettini M, Gonorazky H, … Rugiero M
  • Cases of acquired rippling muscle disease in association with myasthenia gravis have been reported. We present three patients with iRMD (immune-mediated rippling muscle disease) and AChR-antibody positive myasthenia gravis. None of them had thymus pathology. They presented exercise-induced muscle rippling combined with generalized myasthenia gravis. One of them had muscle biopsy showing a myopath…
  • Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. [Case Reports]
    Neuropathology 2016; 36(5):485-489Chen J, Zeng W, … Tong X
  • Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, including limb girdle muscular dystrophy, rippling muscle disease, distal myopathy (MD), idiopathic persistent elevation of serum creatine kinase and cardiomyopathy. MD is a relatively rare subtype of caveolinopathy. Here, we report a sporadic case of a middle-aged female Chinese patient with MD in…
  • Caveolinopathies in Greece. [Journal Article]
    Neurologist 2015; 20(1):8-12Papadopoulos C, Papadimas GK, … Manta P
  • CONCLUSIONS: Clinical manifestations and histochemical findings in caveolinopathy patients may be mild or nonspecific or overlapping with features of other muscular dystrophies. Immunohistochemical study of caveolin-3 expression on muscle biopsy should be routinely performed when investigating isolated hyperCKemia or undetermined myopathy especially in the presence of percussion-induced muscle mounding.
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