Results 61 to 70 of about 45,552 (135)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.This study revealed three patients with familial gigantiform cementoma (FGC) carried the heterozygous mutation c.1067G>A (p.Cys356Tyr) in the ANO5 gene which was not found in 8 juvenile ossifying fibromas, 5 polyostotic fibrous dysplasia and 5 florid cemento‐osseous dysplasia.
Zheng Zhou +5 more
wiley +1 more source
Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy [PDF]
, 2009 Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction.
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A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy. [PDF]
BMJ Case Rep, 2021 Ganchinho Lucas S +3 more
europepmc +1 more source
Necrotising autoimmune myopathy
, 2017 Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
core +1 more source
BiomoleculesDysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj +1 more source
Immunocytochemical and Western Blot Analysis in Miyoshi Myopathy [PDF]
, 2017 Background: Recent genetic analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF, which induces the dysfunction of dysferlin. We identified the deficiency of dysferlin by immunohistochemistry and Western blot in four patients
선우일남 +3 more
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Simulation data from GAIA (Ground-to-topside model of Atmosphere and Ionosphere for Aeronomy)
, 2010 This dataset comprises numerical outputs from the whole atmospheric model GAIA (=Ground-to-topside model of Atmosphere and Ionosphere for Aeronomy) and associated simulations presented in the article "Whole atmosphere model simulations of ultra-fast ...
Yasunobu, Miyoshi, Yamazaki, Yosuke
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Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions
Journal of Arrhythmia, Volume 41, Issue 2, April 2025.
wiley +1 more source
, 2001 Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement.
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Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy
, 2004 Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin.
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core