PMID- 22832386
OWN - NLM
STAT- MEDLINE
DCOM- 20130401
LR  - 20221207
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 57
IP  - 10
DP  - 2012 Oct
TI  - Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage 
      disease with myopathy.
PG  - 679-81
LID - 10.1038/jhg.2012.84 [doi]
AB  - Neutral lipid storage disease with myopathy (NLSDM) referred to those neutral 
      lipid storage disease (NLSD) patients with myopathy but without ichthyosis. 
      Recently, NLSDM has been attributed to mutations in the PNPLA2 gene. Until now, 
      19 patients with PNPLA2 mutations have been reported. In the present study, we 
      describe the clinical and genetic findings in three Chinese patients with NLSDM. 
      Sequence analysis of PNPLA2 gene was performed. In our patients we identified 
      four novel mutations in the PNPLA2 gene including two splicing mutations. The 
      identification and study of mutations found in PNPLA2 is also particularly 
      important to define the clinical spectrum and genotype-phenotype correlations of 
      the PNPLA2 gene.
FAU - Lin, Pengfei
AU  - Lin P
AD  - Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for 
      Experimental Teratology of the Ministry of Education, Shandong University, 
      Shandong, China.
FAU - Li, Wei
AU  - Li W
FAU - Wen, Bing
AU  - Wen B
FAU - Zhao, Yuying
AU  - Zhao Y
FAU - Fenster, Danielle S
AU  - Fenster DS
FAU - Wang, Yongxiang
AU  - Wang Y
FAU - Gong, Yaoqin
AU  - Gong Y
FAU - Yan, Chuanzhu
AU  - Yan C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120726
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - EC 3.1.1.3 (Lipase)
RN  - EC 3.1.1.3 (PNPLA2 protein, human)
RN  - Neutral Lipid Storage Disease with Myopathy
SB  - IM
MH  - Adult
MH  - Asian People/*genetics
MH  - Biopsy
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - Lipase/*genetics
MH  - Lipid Metabolism, Inborn Errors/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Muscles/pathology
MH  - Muscular Atrophy/genetics/pathology
MH  - Muscular Diseases/*genetics/pathology
MH  - *Mutation
MH  - Population Groups/genetics
EDAT- 2012/07/27 06:00
MHDA- 2013/04/02 06:00
CRDT- 2012/07/27 06:00
PHST- 2012/07/27 06:00 [entrez]
PHST- 2012/07/27 06:00 [pubmed]
PHST- 2013/04/02 06:00 [medline]
AID - jhg201284 [pii]
AID - 10.1038/jhg.2012.84 [doi]
PST - ppublish
SO  - J Hum Genet. 2012 Oct;57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26.