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Unlabelled: Outpouching of the heart ventricles, especially of the right ventricle, is rare. Here, we report the case of a 60-year-old male, referred to our institution with an outpouched structure at the right ventricular apex. The patient had no cardiac events.

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Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4 autoantibodies as a biomarker of immune-mediated RMD (iRMD), though the underlying disease-mechanisms remain poorly understood.

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This review comprehensively explores the critical role of calcium as an essential small-molecule biomessenger in skeletal muscle function. Calcium is vital for both regulating muscle excitation-contraction coupling and for the development, maintenance, and regeneration of muscle cells. The orchestrated release of calcium from the endoplasmic reticulum (ER) is mediated by receptors such as the ryanodine receptor (RYR) and inositol 1,4,5-trisphosphate receptor (IP3R), which is crucial for skeletal muscle contraction.

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Article Synopsis
  • Brody disease (BD) is an ultra-rare genetic disorder affecting muscle function due to a deficiency in the SERCA protein, leading to stiffness and delayed muscle relaxation after exercise.
  • There are currently no specific therapies or mouse models for BD, making it an orphan disease; however, bovine congenital pseudomyotonia serves as a mammalian model to study the condition.
  • This study focuses on the "acctq206" zebrafish variant as a potential model for testing new treatments, emphasizing the need for preclinical research before moving to human clinical trials.
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Familial hemiplegic migraine.

Handb Clin Neurol

August 2024

Wolfson Sensory, Pain and Regeneration Research Centre (SPaRRC), Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. Electronic address:

Hemiplegic migraine consists of attacks of migraine with aura that includes reversible motor weakness. It is classified as familial or sporadic depending on the involvement or not of a first or second degree relative. The most described subtypes of familial hemiplegic migraine include FHM1, FHM2, and FHM3.

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