A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

Clinical Neuropathology

Volumn 29, Issue 6, 2010, Pages 351-356

  Chen, J ^a   Hong, D ^a   Wang, Z ^a   Yuan, Y ^a  

^a PEKING UNIVERSITY   (China)

Author keywords

Lipid storage myopathy; Neutral lipid storage disease with myopathy; PNPLA2; Rimmed vacuoles

Indexed keywords

ACYLGLYCEROL LIPASE; TRIACYLGLYCEROL;

ADIPOSE TISSUE; ADULT; ARTICLE; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HEARING LOSS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; LIPID STORAGE; MUSCULAR DYSTROPHY; MYOPATHY; NEUROPATHOLOGY; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; PNPLA2 GENE; PRIORITY JOURNAL; SHORT STATURE; SIBLING;

EID: 78549253912     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp29351     Document Type: Article

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