A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

Neuromuscular Disorders

Volumn 24, Issue 7, 2014, Pages 634-641

  Kaneko, Kimihiko ^a   Kuroda, Hiroshi ^a   Izumi, Rumiko ^a   Tateyama, Maki ^a   Kato, Masaaki ^a   Sugimura, Koichiro ^a   Sakata, Yasuhiko ^a   Ikeda, Yoshihiko ^b   Hirano, Ken ichi ^c   Aoki, Masashi ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Adipose triglyceride lipase; Asymmetric myopathy; Neutral lipid storage disease with myopathy; Patatin like phospholipase domain containing 2; Triglyceride deposit cardiomyovasculopathy

Indexed keywords

ADULT; ANGIOCARDIOGRAPHY; ARM MUSCLE; ARTICLE; CARDIOMEGALY; CARDIOMYOPATHY; CELL VACUOLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMORBIDITY; COMPUTER ASSISTED TOMOGRAPHY; CYTOPLASM; DIABETES MELLITUS; EXON; FEMALE; FOOT MALFORMATION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART MUSCLE BIOPSY; HOMOZYGOSITY; HUMAN; HYPERLIPIDEMIA; LEG MUSCLE; LIPID STORAGE; LIPIDOSIS; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; PANCREATITIS; PARASPINAL MUSCLE; PNPLA2 GENE; PRIORITY JOURNAL; SHOULDER GIRDLE; SKELETAL MUSCLE; THORAX RADIOGRAPHY; TRIGLYCERIDE DEPOSIT CARDIOMYOVASCULOPATHY; CASE REPORT; CORONARY ARTERY DISEASE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; GENOTYPING TECHNIQUE; METABOLISM; MUSCLE DISEASE; MUTATION; PATHOLOGY; PHENOTYPE; TRANSMISSION ELECTRON MICROSCOPY;

PNPLA2 PROTEIN, HUMAN; TRIACYLGLYCEROL; TRIACYLGLYCEROL LIPASE;

CARDIOMYOPATHIES; CORONARY ANGIOGRAPHY; CORONARY ARTERY DISEASE; GENOTYPING TECHNIQUES; HUMANS; LIPASE; LIPID METABOLISM, INBORN ERRORS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED; TRIGLYCERIDES;

EID: 84901917796     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.04.001     Document Type: Article

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