Neutral Lipid Storage Disease With Myopathy
What's New
Last Posted: Feb 28, 2023
- Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
Samukawa Makoto, et al. European neurology 2020 0 (3) 317-322 - Neutral lipid storage disease with myopathy
From NCATS Genetic and Rare Diseases Information Center - Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Coassin Stefan, et al. PLoS genetics 2010 0 (12) e1001239 - High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
Lan M-Y, et al. Clinical genetics 2010 12 (6) 565-9 - Clinical and genetic analysis of lipid storage myopathies.
Ohkuma Aya, et al. Muscle & nerve 2009 3 (3) 333-42
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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