Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

American Journal of Human Genetics

Volumn 70, Issue 5, 2002, Pages 1368-1375

  Arikawa Hirasawa, Eri ^a,i   Le, Alexander H ^a   Nishino, Ichizo ^b   Nonaka, Ikuya ^b   Ho, Nicola C ^c   Francomano, Clair A ^c   Govindraj, Prasanthi ^d   Hassell, John R ^d   Devaney, Joseph M ^e   Spranger, Jürgen ^f   Stevenson, Roger E ^f   Iannaccone, Susan ^g   Dalakas, Marinos C ^h   Yamada, Yoshihiko ^a  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d Cell Biology Laboratory   (United States)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f GREENWOOD GENETIC CENTER   (United States)

^g Texas Scottish Rite Hospital   (United States)

^h National Institute of Neuronal Disorders and Strokes   (United States)

ⁱ JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PERLECAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; CARTILAGE; CASE REPORT; CHONDRODYSPLASIA; CONTROLLED STUDY; DISEASE SEVERITY; DYSPLASIA; ESSENTIAL GENE; EXTRACELLULAR MATRIX; GENE DELETION; GENE MUTATION; GENE STRUCTURE; HETEROZYGOSITY; HSPG2 GENE; HUMAN; HUMAN TISSUE; INFANT; LETHAL MUTANT; MALE; MOLECULAR DYNAMICS; MYOPATHY; MYOTONIA; NEUROMUSCULAR FUNCTION; PERLECAN GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEOGLYCAN SYNTHESIS; SCHOOL CHILD; SCHWARTZ JAMPEL SYNDROME; SILVERMAN HANDMAKER SYNDROME; WILD TYPE;

EID: 18344383853     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/340390     Document Type: Article

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