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July 27, 2024HeliyonOpen Access

Clinical Description of a Homozygous Lys1169* Variant in the DYSF Gene Associated with Autosomal Recessive Miyoshi Muscular Dystrophy Type 1: A Familial Case Report

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Authors

AAAlex S. AguirreVRVanessa Romero

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Aguirre et al. (2024) studied this question.

synapsesocial.com/papers/68e5ed4cb6db64358758208chttps://doi.org/10.1016/j.heliyon.2024.e35333
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy2021 · 1 citations
  2. 2Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population2005 · 62 citations
  3. 3Challenges for the genetic screening in dysferlin deficiency – report of an instructive case and review of the literature2008 · 3 citations
  4. 4Phenotypic Study in 40 Patients With Dysferlin Gene Mutations2007 · 268 citations
  5. 5A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report2024