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408

Neutral Lipid Storage Disease with Myopathy

Klinische Symptomatik

Neutral lipid storage disorders (NLSDs) are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Patients show multisystem triglyceride storage and myopathy, inconstantly associated with delays in walking, various cardiac abnormalities, and hepatomegaly. Occasionally diabetes or cardiovascular complications may be present. Notably, individuals with NLSDM do not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells.

Genetik

Neutral lipid storage disease without ichthyosis but with mild myopathy is caused by mutations in the gene PNPLA2, which encodes adipose triglyceride lipase (ATGL).

Indikation

Lipid storage myopathy

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Material 2-4 ml EDTA-Blut
Dauer
3-6 Wochen

 

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