Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

Archives of Neurology

Volumn 65, Issue 8, 2008, Pages 1083-1090

  Tajsharghi, Homa ^a   Kimber, Eva ^b,d   Kroksmark, Anna Karin ^b,c   Jerre, Ragnar ^a   Tulinius, Mar ^b,c   Oldfors, Anders ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^d UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISTAL ARTHROGRYPOSIS; DOWN REGULATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MALE; MORPHOLOGY; MUSCLE BIOPSY; MUSCLE CELL; MYOPATHY; MYOSIN HEAVY CHAIN 3 GENE; MYOSIN MYOPATHY; PRIORITY JOURNAL;

ARTHROGRYPOSIS; BASE SEQUENCE; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS; PRENATAL DIAGNOSIS; PROTEIN ISOFORMS;

EID: 49449106493     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.65.8.1083     Document Type: Article

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