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January 1, 1994Human Mutation

Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations

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Population

70 published and unpublished small mutations in the dystrophin gene associated with Duchenne and Becker…

Design

Review

Authors

RRRoland G. RobertsPublic Library of ScienceRGR J GardnerGuy's HospitalMBMartin BobrowWolfson Foundation

Discussion

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Implication

May inform variant classification in dystrophinopathies; leaves open functional validation of rare missense alleles in BMD.

Structured PICO

P
Population
70 published and unpublished small mutations in the dystrophin gene associated with Duchenne and Becker muscular dystrophy (DMD, BMD)
O
Outcome
Nature, distribution, and characterization of small mutations in the dystrophin gene

This review highlights that most DMD point mutations cause premature translational termination, reducing dystrophin transcripts, while BMD point mutations are often missense or splice-site mutations.

Cite This Study

Roberts et al. (1994) studied this question.

synapsesocial.com/papers/6a850eecd0366b4bb554db6bhttps://doi.org/10.1002/humu.1380040102
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Also Consider

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

  1. 1The Molecular Basis of Muscular Dystrophy in the <i>mdx</i> Mouse: a Point Mutation1989 · 1,263 citations
  2. 2Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin).1993 · 156 citations
  3. 3Premature chain termination mutation causing Duchenne muscular dystrophy1992 · 24 citations
  4. 4A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones1990 · 645 citations
  5. 5Characterization of deletions in the dystrophin gene giving mild phenotypes1990 · 35 citations