Clinical and genetic analysis of lipid storage myopathies

Muscle and Nerve

Volumn 39, Issue 3, 2009, Pages 333-342

  Ohkuma, Aya ^a,b   Noguchi, Satoru ^e   Sugie, Hideo ^c   Malicdan, May Christine V ^b   Fukuda, Tokiko ^c   Shimazu, Kunio ^b   López, Luis Carlos ^d   Hirano, Michio ^d   Hayashi, Yukiko K ^e   Nonaka, Ikuya ^e   Nishino, Ichizo ^e  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b SAITAMA MEDICAL UNIVERSITY   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d NewYork Presbyterian Hospital   (United States)

^e NONE

Author keywords

ABHD5; ETF; ETFDH; Lipid storage myopathy; PNPLA2; SLC22A5

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; UBIDECARENONE;

ADULT; AGED; ARTICLE; CARNITINE DEFICIENCY; CLINICAL EXAMINATION; ENZYME DEFECT; ETFA GENE; ETFB GENE; ETFDH GENE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; ICHTHYOSIS; LIPIDOSIS; MAJOR CLINICAL STUDY; MALE; MYOPATHY; PRIORITY JOURNAL; SLC22A5 GENE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, THIN LAYER; DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; LIPASE; LIPID METABOLISM; LIPID METABOLISM DISORDERS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; ORGANIC CATION TRANSPORT PROTEINS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 62849112102     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21167     Document Type: Article

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