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July 24, 2001NeurologyOpen Access

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

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Population

21 patients with defined molecular defects in the dysferlin gene

Design

Case_series

Authors

MAMasashi AokiJLJ. LiuIRIsabelle Richard

Discussion

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Overview

May expand dysferlin mutation screening in Miyoshi myopathy; leaves open diagnostic adoption pending validation.

Structured PICO

P
Population
21 patients with defined molecular defects in the dysferlin gene
I
Intervention
Mutational screening and survey of clinical features
O
Outcome
Genomic organization of the dysferlin gene and identification of novel mutations

The study defines the genomic organization of the dysferlin gene and identifies nine novel mutations associated with Miyoshi myopathy, facilitating future mutation detection.

Cite This Study

Aoki et al. (2001) studied this question.

synapsesocial.com/papers/6a70b57ff44fa9f079de660dhttps://doi.org/10.1212/wnl.57.2.271
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Also Consider

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

  1. 1Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-141995 · 147 citations
  2. 2DYSTROPHIN-ASSOCIATED PROTEINS AND THE MUSCULAR DYSTROPHIES1997 · 61 citations
  3. 3Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis1998 · 114 citations
  4. 4Beyond dystrophin1996 · 63 citations
  5. 5A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p1994 · 193 citations