CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia

Abstract Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation. Case report: 12-year-old male, history of blood parents and aver...

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Bibliographic Details
Main Authors: Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro
Format: Article
Language:English
Published: SciELO 2023-01-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
CLN6
Neuronal ceroid lipofuscinoses
Lysosomal storage diseases
Batten disease
Variant late infantile
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100601&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100601&lng=en&tlng=en

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