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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 11/2017

01-11-2017 | Scientific Letter

Mucolipidosis Type IV Due to Novel MCOLN1 Mutation

Authors: Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Maya Bhat, Asha Benakappa

Published in: Indian Journal of Pediatrics | Issue 11/2017

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Excerpt

To the Editor: Mucolipidosis (ML) type IV is a lysosomal storage disease, characterized by psychomotor delay and corneal clouding [1]. We report the first genetically confirmed case of mucolipidosis IV from India. …
Literature
1.
Crandall BF, Philippart M, Brown WJ, Bluestone DA. Review article: mucolipidosis type IV. Am J Med Genet. 1982;12:301–8.CrossRefPubMed
2.
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.CrossRefPubMed
3.
Altarescu G, Sun M, Moore DF, et al. The neurogenetics of mucolipidosis type IV. Neurology. 2002;59:306–13.CrossRefPubMed
4.
Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Mucolipidosis type 4: characteristic MRI findings. Neurology. 1998;51:565–9.CrossRefPubMed
5.
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.CrossRefPubMed
Metadata
Title
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation
Authors
Vykuntaraju K. Gowda
Varunvenkat M. Srinivasan
Maya Bhat
Asha Benakappa
Publication date
01-11-2017
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 11/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2401-6

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