Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Movement Disorders

Volumn 20, Issue 7, 2005, Pages 819-821

  Zhang, Yu Hu ^a   Tang, Bei Sha ^a,b   Zhao, Ai Ling ^c   Xia, Kun ^b   Long, Zhi Gao ^b   Guo, Ji Feng ^a   Westaway, Shawn K ^d   Hayflick, Susan J ^d  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Hallervorden Spatz syndrome; Magnetic resonance imaging; Neurodegeneration; PANK2 gene; Pantothenate kinase associated neurodegeneration; PKAN

Indexed keywords

GENOMIC DNA; PANTOTHENATE KINASE; PANTOTHENATE KINASE 2; UNCLASSIFIED DRUG;

ADULT; ARM DISEASE; ARTICLE; ATHETOSIS; AUTOANALYSIS; CASE REPORT; CHINESE; DISEASE ASSOCIATION; DNA SEQUENCE; DYSARTHRIA; DYSPHAGIA; EXON; FACE DISORDER; FINGER; GENE MUTATION; HALLERVORDEN SPATZ DISEASE; HAND DISEASE; HETEROZYGOSITY; HUMAN; MALE; MOTOR DYSFUNCTION; MUSCLE RIGIDITY; NECK MUSCLE; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TREMOR; WRITING;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARAGINE; ASPARTIC ACID; DNA MUTATIONAL ANALYSIS; EXONS; GLYCINE; HALLERVORDEN-SPATZ SYNDROME; HETEROZYGOTE; HUMANS; ISOLEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 24144493669     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20408     Document Type: Article

References (10)

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