Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

Journal of Human Genetics

Volumn 57, Issue 10, 2012, Pages 679-681

  Lin, Pengfei ^a   Li, Wei ^a   Wen, Bing ^a   Zhao, Yuying ^a   Fenster, Danielle S ^b   Wang, Yongxiang ^b   Gong, Yaoqin ^c   Yan, Chuanzhu ^a  

^a SHANDONG UNIVERSITY   (China)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c SHANDONG UNIVERSITY   (China)

Author keywords

ATGL; gene mutation; myopathy; NLSDM; PNPLA2

Indexed keywords

CREATINE KINASE; FAT DROPLET; GENOMIC DNA; MESSENGER RNA; PNPLA2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARM; ARTICLE; BICEPS BRACHII MUSCLE; CELL VACUOLE; CHINESE; CODON; CONSENSUS SEQUENCE; CREATINE KINASE BLOOD LEVEL; DNA EXTRACTION; EXON; FAMILY HISTORY; FASCICULATION; FATIGUE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; INTRON; LEG; LEUKOCYTE; LIFTING EFFORT; LIMB WEAKNESS; LIPID STORAGE; LIPIDOSIS; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYALGIA; MYOPATHY; NECK MUSCLE; NEUROLOGIC EXAMINATION; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKELETAL MUSCLE; SPLICING DEFECT; STOP CODON; TRICEPS BRACHII MUSCLE; WALKING DIFFICULTY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; LIPASE; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; MUSCLES; MUSCULAR ATROPHY; MUSCULAR DISEASES; MUTATION; POPULATION GROUPS;

EID: 84867964638     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.84     Document Type: Article

References (12)

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