Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

Kiran Polavarapu, Veeramani Preethish-Kumar, Deepha Sekar, Seena Vengalil, Saraswati Nashi, Niranjan P. Mahajan, Priya Treesa Thomas, Arun Sadasivan, Manjusha Warrier, Anupam Gupta, Gautham Arunachal, Monojit Debnath, Muddasu Suhasini Keerthipriya, Chevula Pradeep-Chandra-Reddy, Arpitha Puttegowda, Anu P. John, Ajitha Tavvala, Swetha Gunasekaran, Talakad N. Sathyaprabha, Sadanandavalli Retnaswami ChandraBoris Kramer, Tammo Delhaas, Atchayaram Nalini*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2177-2185
Number of pages9
JournalJournal of Neurology
Volume266
Issue number9
DOIs
Publication statusPublished - Sep 2019

Keywords

  • Duchenne muscular dystrophy
  • Familial
  • Mutation
  • India
  • DMD GENE
  • DATABASE
  • DIAGNOSIS

Cite this

Polavarapu, Kiran ; Preethish-Kumar, Veeramani ; Sekar, Deepha ; Vengalil, Seena ; Nashi, Saraswati ; Mahajan, Niranjan P. ; Thomas, Priya Treesa ; Sadasivan, Arun ; Warrier, Manjusha ; Gupta, Anupam ; Arunachal, Gautham ; Debnath, Monojit ; Keerthipriya, Muddasu Suhasini ; Pradeep-Chandra-Reddy, Chevula ; Puttegowda, Arpitha ; John, Anu P. ; Tavvala, Ajitha ; Gunasekaran, Swetha ; Sathyaprabha, Talakad N. ; Chandra, Sadanandavalli Retnaswami ; Kramer, Boris ; Delhaas, Tammo ; Nalini, Atchayaram. / Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms : a study in an Indian large single-center cohort. In: Journal of Neurology. 2019 ; Vol. 266, No. 9. pp. 2177-2185.
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title = "Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort",
keywords = "Duchenne muscular dystrophy, Familial, Mutation, India, DMD GENE, DATABASE, DIAGNOSIS",
author = "Kiran Polavarapu and Veeramani Preethish-Kumar and Deepha Sekar and Seena Vengalil and Saraswati Nashi and Mahajan, {Niranjan P.} and Thomas, {Priya Treesa} and Arun Sadasivan and Manjusha Warrier and Anupam Gupta and Gautham Arunachal and Monojit Debnath and Keerthipriya, {Muddasu Suhasini} and Chevula Pradeep-Chandra-Reddy and Arpitha Puttegowda and John, {Anu P.} and Ajitha Tavvala and Swetha Gunasekaran and Sathyaprabha, {Talakad N.} and Chandra, {Sadanandavalli Retnaswami} and Boris Kramer and Tammo Delhaas and Atchayaram Nalini",
year = "2019",
month = "9",
doi = "10.1007/s00415-019-09380-3",
language = "English",
volume = "266",
pages = "2177--2185",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Springer",
number = "9",

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Polavarapu, K, Preethish-Kumar, V, Sekar, D, Vengalil, S, Nashi, S, Mahajan, NP, Thomas, PT, Sadasivan, A, Warrier, M, Gupta, A, Arunachal, G, Debnath, M, Keerthipriya, MS, Pradeep-Chandra-Reddy, C, Puttegowda, A, John, AP, Tavvala, A, Gunasekaran, S, Sathyaprabha, TN, Chandra, SR, Kramer, B, Delhaas, T & Nalini, A 2019, 'Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort', Journal of Neurology, vol. 266, no. 9, pp. 2177-2185. https://doi.org/10.1007/s00415-019-09380-3

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms : a study in an Indian large single-center cohort. / Polavarapu, Kiran; Preethish-Kumar, Veeramani; Sekar, Deepha; Vengalil, Seena; Nashi, Saraswati; Mahajan, Niranjan P.; Thomas, Priya Treesa; Sadasivan, Arun; Warrier, Manjusha; Gupta, Anupam; Arunachal, Gautham; Debnath, Monojit; Keerthipriya, Muddasu Suhasini; Pradeep-Chandra-Reddy, Chevula; Puttegowda, Arpitha; John, Anu P.; Tavvala, Ajitha; Gunasekaran, Swetha; Sathyaprabha, Talakad N.; Chandra, Sadanandavalli Retnaswami; Kramer, Boris; Delhaas, Tammo; Nalini, Atchayaram.

In: Journal of Neurology, Vol. 266, No. 9, 09.2019, p. 2177-2185.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms

T2 - a study in an Indian large single-center cohort

AU - Polavarapu, Kiran

AU - Preethish-Kumar, Veeramani

AU - Sekar, Deepha

AU - Vengalil, Seena

AU - Nashi, Saraswati

AU - Mahajan, Niranjan P.

AU - Thomas, Priya Treesa

AU - Sadasivan, Arun

AU - Warrier, Manjusha

AU - Gupta, Anupam

AU - Arunachal, Gautham

AU - Debnath, Monojit

AU - Keerthipriya, Muddasu Suhasini

AU - Pradeep-Chandra-Reddy, Chevula

AU - Puttegowda, Arpitha

AU - John, Anu P.

AU - Tavvala, Ajitha

AU - Gunasekaran, Swetha

AU - Sathyaprabha, Talakad N.

AU - Chandra, Sadanandavalli Retnaswami

AU - Kramer, Boris

AU - Delhaas, Tammo

AU - Nalini, Atchayaram

PY - 2019/9

Y1 - 2019/9

KW - Duchenne muscular dystrophy

KW - Familial

KW - Mutation

KW - India

KW - DMD GENE

KW - DATABASE

KW - DIAGNOSIS

U2 - 10.1007/s00415-019-09380-3

DO - 10.1007/s00415-019-09380-3

M3 - Article

VL - 266

SP - 2177

EP - 2185

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 9

ER -