PMID- 21073837
OWN - NLM
STAT- MEDLINE
DCOM- 20110106
LR  - 20191111
IS  - 0722-5091 (Print)
IS  - 0722-5091 (Linking)
VI  - 29
IP  - 6
DP  - 2010 Nov-Dec
TI  - A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy 
      (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed 
      vacuoles.
PG  - 351-6
AB  - Neutral lipid storage disease with myopathy (NLSDM) is a type of lipid storage 
      myopathy arising due to a mutation in the PNPLA2 gene encoding an adipose 
      triglyceride lipase responsible for the degradation of intracellular 
      triglycerides. Herein, we report the cases of two siblings manifesting slowly 
      progressive proximal and distal limb weakness in adulthood. One of the patients 
      had dilated cardiomyopathy, hearing loss and short stature. Muscle specimens of 
      the 2 patients revealed muscular dystrophic features with massive lipid droplets 
      and numerous rimmed vacuoles in the fibers. A novel homozygous mutation IVS2+1G > 
      A in the PNPLA2 gene was identified in the 2 cases, but not in the healthy 
      familial individuals. The presence of massive lipid droplets with muscular 
      dystrophic changes and rimmed vacuoles in muscle fibers might be one of the 
      characteristic pathological changes of NLSDM.
FAU - Chen, J
AU  - Chen J
AD  - Department of Neurology, Peking University First Hospital, Beijing, China.
FAU - Hong, D
AU  - Hong D
FAU - Wang, Z
AU  - Wang Z
FAU - Yuan, Y
AU  - Yuan Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Clin Neuropathol
JT  - Clinical neuropathology
JID - 8214420
RN  - 0 (Lipids)
RN  - EC 3.1.1.3 (Lipase)
RN  - EC 3.1.1.3 (PNPLA2 protein, human)
RN  - Chanarin-Dorfman Syndrome
SB  - IM
MH  - Adult
MH  - Biopsy
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Ichthyosiform Erythroderma, Congenital/diagnosis/genetics
MH  - Lipase/*genetics
MH  - Lipid Metabolism, Inborn Errors/diagnosis/genetics
MH  - *Lipids
MH  - Male
MH  - Middle Aged
MH  - Muscle, Skeletal/pathology
MH  - Muscular Diseases/diagnosis/genetics
MH  - Muscular Dystrophies/*pathology
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Vacuoles/*pathology
EDAT- 2010/11/16 06:00
MHDA- 2011/01/07 06:00
CRDT- 2010/11/16 06:00
PHST- 2010/11/16 06:00 [entrez]
PHST- 2010/11/16 06:00 [pubmed]
PHST- 2011/01/07 06:00 [medline]
AID - 8105 [pii]
AID - 10.5414/npp29351 [doi]
PST - ppublish
SO  - Clin Neuropathol. 2010 Nov-Dec;29(6):351-6. doi: 10.5414/npp29351.