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June 10, 2003Neurology

Dysferlin mutations in Japanese Miyoshi myopathy

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Key result

In 25 Japanese patients with Miyoshi myopathy, 16 different dysferlin mutations were identified, with G3370T associated with milder disease and G3510A with more severe disease.

Population

25 Japanese patients with Miyoshi myopathy (MM)

Design

Cross-sectional

Authors

TTTakashi TakahashiMAMasashi AokiMTM. Tateyama

Discussion

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Overview

May inform prognosis in Japanese Miyoshi myopathy; leaves open generalizability and clinical utility pending larger studies.

Study Design

Type

Observational (n=25)

Structured PICO

P
Population
25 Japanese patients with Miyoshi myopathy evaluated for dysferlin gene mutations.
E
Exposure
Screening of 55 exons of the dysferlin gene by single strand conformation polymorphism or direct sequencing
O
Outcome
Dysferlin gene mutations and genotype-phenotype correlationssurrogate

In Japanese patients with Miyoshi myopathy, specific dysferlin mutations are prevalent and correlate with disease severity.

Cite This Study

Takahashi et al. (2003) conducted an observational in Miyoshi myopathy (n=25). Dysferlin gene mutations was evaluated on Dysferlin gene mutations and genotype-phenotype correlations. In 25 Japanese patients with Miyoshi myopathy, 16 different dysferlin mutations were identified, with G3370T associated with milder disease and G3510A with more severe disease.

synapsesocial.com/papers/6a83180ba250d11ff44cd634https://doi.org/10.1212/01.wnl.0000068333.43005.12
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Also Consider

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

  1. 1Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy2001 · 146 citations
  2. 2Phenotypic Features and Genetic Findings in 2 Chinese Families With Miyoshi Distal Myopathy2004 · 22 citations
  3. 3Dysferlin mutation analysis in a group of Italian patients with limb‐girdle muscular dystrophy and Miyoshi myopathy2004 · 39 citations
  4. 4Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)1999 · 180 citations
  5. 5A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy2021 · 1 citations