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July 1, 2021BMJ Case ReportsOpen Access

Novel DYSF gene mutation linked to progressively worsening Miyoshi myopathy over 8 years.

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Population

A 33-year-old man from a non-consanguineous Portuguese family

Design

Case report

Follow-up

8 years

Key result

A novel c3367_3368del DYSF gene mutation was identified in a 33-year-old Portuguese man with Miyoshi myopathy, whose symptoms worsened over 8 years of follow-up.

Authors

SLSandra LucasISInês SantosFAFilipe Alfaiate

Discussion

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Overview

Extends DYSF mutational spectrum in Miyoshi myopathy; hypothesis-generating and should not yet change practice.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P
Population
A 33-year-old Portuguese man with Miyoshi myopathy followed over 8 years.
O
Outcome
Identification of a novel DYSF gene mutation and disease progression

This is the first report of the c3367_3368del DYSF gene mutation causing Miyoshi myopathy in a Portuguese family.

Limitations

  • Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.
  • Disease progression cannot be predicted because there are no similar cases previously described in the literature.

Cite This Study

Lucas et al. (2021) conducted a case report in Miyoshi myopathy (n=1). c3367_3368del DYSF gene mutation was evaluated on Disease progression. A novel c3367_3368del DYSF gene mutation was identified in a 33-year-old Portuguese man with Miyoshi myopathy, whose symptoms worsened over 8 years of follow-up.

synapsesocial.com/papers/6aa2fbd6a85d7f755fd2d8d6https://doi.org/10.1136/bcr-2021-242341
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Also Consider

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

  1. 1Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population2005 · 62 citations
  2. 2Dysferlin mutation analysis in a group of Italian patients with limb‐girdle muscular dystrophy and Miyoshi myopathy2004 · 39 citations
  3. 3Clinical Description of a Homozygous Lys1169* Variant in the DYSF Gene Associated with Autosomal Recessive Miyoshi Muscular Dystrophy Type 1: A Familial Case Report2024
  4. 4Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies2005 · 122 citations
  5. 5Dysferlin Homozygous Mutation G1418D Causes Limb-Girdle Type 2B in a Mexican Family2007 · 10 citations