Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia
BMC Neurology, 2021 Background Sarcopenia is the age-related loss of muscle mass and strength. Undiagnosed late-onset neuromuscular disorders need to be considered in the differential diagnosis of sarcopenia.
Fabian Hofmeister +11 more
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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Cell Reports, 2017 Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori +8 more
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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome, [PDF]
Anais Brasileiros de Dermatologia, 2020 Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple ...
Ana Laura Andrade Bueno +3 more
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A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
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Current Progress in CNS Imaging of Myotonic Dystrophy
Frontiers in Neurology, 2018 Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders.
Martina Minnerop +4 more
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Aurintricarboxylic Acid Decreases RNA Toxicity in a C. elegans Model of Repeat Expansions
Toxins, 2021 Pathologic expansions of DNA nucleotide tandem repeats may generate toxic RNA that triggers disease phenotypes. RNA toxicity is the hallmark of multiple expansion repeat disorders, including myotonic dystrophy type 1 (DM1).
Maya Braun +3 more
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Myotonic dystrophies as a brain disorder [PDF]
Neurological Sciences, 2010 In their article, Romeo et al. [1] emphasize that abnormalities in blood perfusion and/or glucose metabolism are frequent in myotonic dystrophy type 1 (DM1 or Steinert’s disease). I would suggest that these abnormalities and others encompass all myotonic dystrophies. Myotonic dystrophies are autosomal dominant multisystem disorders.
openaire +2 more sources
Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]
, 2013 Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
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The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. [PDF]
PLoS ONE, 2012 Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene.
Tatsuaki Kurosaki +5 more
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Epigenetics and triplet-repeat neurological diseases [PDF]
, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
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