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September 10, 2025Jentashapir Journal of Cellular and Molecular BiologyOpen Access

Study of Muscular Dystrophy (TTN Gene) in One Family from Khuzestan Using Whole Exome Sequencing

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Authors

NMNegar MehrzadehAMAtousa Moradzadegan

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Overview

Observational analysis finds TTN gene mutation in a family, suggesting WES can aid genetic screening.

Key Points

  • Mutation c.14952_14960 del was identified in the TTN gene, confirming its role in muscular dystrophy.
  • Sequencing revealed a heterozygous mutation in the patient, consistent with findings in the mother.
  • Whole exome sequencing was applied for effective detection of genetic abnormalities in this family.
  • The study highlights the potential of genetic screening to alleviate the burden of inherited muscle diseases.

Cite This Study

Mehrzadeh et al. (2025) studied this question.

synapsesocial.com/papers/68c23b4ab210217d64784209https://doi.org/10.5812/jjcmb-162422
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