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J Clin Neurosci ; 58: 207-209, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30352762

ABSTRACT

Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific pharmacological management that decreases clinical progression. We describe the clinical and biochemical characteristics of a Colombian patient with a previously unreported homozygous mutation in the PNPLA2 gene with a difficult to manage disease, who was diagnosed late by advances in molecular techniques.


Subject(s)
Lipase/genetics , Lipid Metabolism, Inborn Errors/genetics , Muscular Diseases/genetics , Delayed Diagnosis , Disease Progression , Female , Humans , Lipid Metabolism, Inborn Errors/physiopathology , Middle Aged , Muscular Diseases/physiopathology , Mutation, Missense
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