Distal arthrogryposis: Clinical and genetic findings

Acta Paediatrica, International Journal of Paediatrics

Volumn 101, Issue 8, 2012, Pages 877-887

  Kimber, Eva ^a,b   Tajsharghi, Homa ^c   Kroksmark, Anna Karin ^b   Oldfors, Anders ^c   Tulinius, Már ^b  

^a UPPSALA UNIVERSITY   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Arthrogryposis; Distal arthrogryposis 1 and 2; Multiple congenital contractures; Muscle weakness; Muscular disease

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTHRALGIA; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAND FUNCTION; HUMAN; INFANT; MALE; MEDICAL HISTORY; MOBILIZATION; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYALGIA; PRIORITY JOURNAL; WALKING DIFFICULTY;

ADOLESCENT; ADULT; AGED; AMPLIFIED FRAGMENT LENGTH POLYMORPHISM ANALYSIS; ARTHROGRYPOSIS; BIOPSY; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HUMANS; INFANT; MALE; MIDDLE AGED; MOTOR SKILLS; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULOSKELETAL PAIN; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SWEDEN; TROPOMYOSIN; TROPONIN I; YOUNG ADULT;

EID: 84863833179     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2012.02708.x     Document Type: Article

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