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neutral lipid storage myopathy

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did 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.
Mondo Term and Equivalent IDs
MONDO:0012545:  neutral lipid storage myopathy
GARD:0010288: 
Orphanet:98908: 
SCTID:699315005: