Neutral lipid storage disease

Lefèvre C et al. (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

Fischer J et al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Akiyama M et al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Reilich P et al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Lin P et al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Markesbery WR et al. (1974) Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes.

Rozenszajn L et al. (1966) Jordans' anomaly in white blood cells. Report of case.

Angelini C et al. (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

Fischer J et al. (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

EI-Kabbany Z et al. (2003) Dorfman-Chanarin syndrome in Egypt.

None (1953) The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

Huigen MC et al. (2015) Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Janssen MC et al. (2013) Symptomatic lipid storage in carriers for the PNPLA2 gene.

OMIM.ORG article

Orphanet article

Wikipedia article