The Indian Journal of Pediatrics

, Volume 84, Issue 11, pp 871–872 | Cite as

Mucolipidosis Type IV Due to Novel MCOLN1 Mutation

  • Vykuntaraju K. Gowda
  • Varunvenkat M. Srinivasan
  • Maya Bhat
  • Asha Benakappa
Scientific Letter
  • 89 Downloads

References

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    Crandall BF, Philippart M, Brown WJ, Bluestone DA. Review article: mucolipidosis type IV. Am J Med Genet. 1982;12:301–8.CrossRefPubMedGoogle Scholar
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    Sun M, Goldin E, Stahl S, et al. Mucolipidosis type IV is caused by mutations in a geneencoding a novel transient receptor potential channel. Hum Mol Genet. 2000;9:2471–8.CrossRefPubMedGoogle Scholar
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    Altarescu G, Sun M, Moore DF, et al. The neurogenetics of mucolipidosis type IV. Neurology. 2002;59:306–13.CrossRefPubMedGoogle Scholar
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    Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Mucolipidosis type 4: characteristic MRI findings. Neurology. 1998;51:565–9.CrossRefPubMedGoogle Scholar
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    Bindu PS, Gayaathri N, Yasha TC, et al. A variant from of mucolipidosis IV: report on 4 patients from the Indian subcontinent. J Child Neurol. 2008;23:1443–6.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Vykuntaraju K. Gowda
    • 1
    • 2
  • Varunvenkat M. Srinivasan
    • 3
  • Maya Bhat
    • 4
  • Asha Benakappa
    • 3
  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia
  3. 3.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia
  4. 4.Department of NeuroradiologyNational Institute of Mental Health and NeurosciencesBangaloreIndia

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