Autor: Elena Faedo
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Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient
Neutral lipid storage disease with myopathy (NLSDM) is an ultra-rare autosomal recessive lipid metabolism disorder caused by PNPLA2 variants, leading to defective adipose triglyceride lipase (ATGL) function and pathological triglyceride accumulation in…