1.
J Clin Neurosci
; 58: 207-209, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30352762
RESUMO
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.