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(muscle dysmorphic disorder)
286 results
  • ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. [Journal Article]
    Ann Neurol 2020; 87(2):217-232Villar-Quiles RN, Catervi F, … Ferreiro A
  • CONCLUSIONS: Our results expand the phenotypical and molecular spectrum of TRIP4-associated disease to include mild adult forms with or without cardiomyopathy, associate ASC-1 depletion with isolated primary muscle involvement, and establish TRIP4 as a causative gene for several congenital muscle diseases, including nemaline, core, centronuclear, and cytoplasmic-body myopathies. They also identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation, and underline transcriptional coregulation defects as a novel pathophysiological mechanism. ANN NEUROL 2020;87:217-232.
  • StatPearls: Body Image Distortion [BOOK]
    StatPearls Publishing: Treasure Island (FL) Hosseini Seyed Alireza SA Iran University of Medical Sciences Padhy Ranjit K. RK UCLA - Kern Medical BOOK
  • Body image is the subjective picture of individuals of their own body, irrespective of how their body actually looks.[1][2] Body image is a complex construct comprising thoughts, feelings, evaluations, and behaviors related to one’s body.[3] Body image misperception is common in the general population and is also a core component of several serious diseases, including body dysmorphic disorder, an…
  • Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function. [Journal Article]
    Dis Model Mech 2019; 13(2)Chagovetz AA, Klatt Shaw D, … Grunwald DJ
  • Mutations affecting ryanodine receptor (RyR) calcium release channels commonly underlie congenital myopathies. Although these channels are known principally for their essential roles in muscle contractility, mutations in the human RYR1 gene result in a broad spectrum of phenotypes, including muscle weakness, altered proportions of fiber types, anomalous muscle fibers with cores or centrally place…
  • Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. [Journal Article]
    Can J Neurol Sci 2019; 46(6):760-761Chatur C, Balani A, … Murthy MG
  • A 9-year-old female presented to neurology outpatient department of our hospital with complaints of recurrent generalized tonic-clonic seizures since birth and was being treated with anticonvulsants for the same. Patient also had complaints of giddiness and episodes of momentary loss of consciousness. There was history of twitching of left hemiface and eyelid during infancy, often associated with…
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