Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar; Kalpana Athimoolam; Manikandan Suraj; Mary Shoba Das Christu Das; Aparna Muralidharan; Divya Jeyam; Jaicy Ashokan; Priya Karthikeyan; Ragav Krishna; Arati Khanna-Gupta; Lakshmi Bremadesam Raman

doi:10.1371/journal.pone.0232654

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Open Access

Peer-reviewed

Research Article

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar,

Roles Data curation, Formal analysis, Methodology, Resources, Writing – original draft

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Kalpana Athimoolam,

Roles Methodology

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Manikandan Suraj,

Roles Methodology, Resources

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Mary Shoba Das Christu Das,

Roles Methodology

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Aparna Muralidharan,

Roles Methodology

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Divya Jeyam,

Roles Methodology

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Jaicy Ashokan,

Roles Methodology

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Priya Karthikeyan,

Roles Data curation

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Ragav Krishna,

Roles Data curation, Formal analysis, Validation

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯
Arati Khanna-Gupta,

Roles Data curation, Formal analysis, Validation, Writing – original draft, Writing – review & editing

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India

http://orcid.org/0000-0002-0965-1737

⨯
Lakshmi Bremadesam Raman

Roles Conceptualization, Data curation, Formal analysis, Investigation, Project administration, Resources, Supervision, Validation, Writing – review & editing

* E-mail: drlakshmi@mdcrcindia.org

Affiliation Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC), Royal CareSuper Speciality Hospital, Neelambur, Coimbatore, Tamil Nadu, India
⨯

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar,
Kalpana Athimoolam,
Manikandan Suraj,
Mary Shoba Das Christu Das,
Aparna Muralidharan,
Divya Jeyam,
Jaicy Ashokan,
Priya Karthikeyan,
Ragav Krishna,
Arati Khanna-Gupta

Published: June 19, 2020
https://doi.org/10.1371/journal.pone.0232654

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Deletion mutation
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Point mutation
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Duchenne muscular dystrophy
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Mutation detection
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