Clinical and molecular overlap between myopathies and inherited connective tissue diseases

Neuromuscular Disorders

Volumn 18, Issue 11, 2008, Pages 843-856

  Voermans, N C ^a,b   Bonnemann C G ^c   Huijing, P A ^b   Hamel, B C ^a   van Kuppevelt, T H ^d   de Haan, A ^b,e,f   Schalkwijk, J ^a   van Engelen, B G ^a,b   Jenniskens, G J ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Institute for Fundamental and Clinical Human Movement Sciences   (Netherlands)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e VU UNIVERSITY AMSTERDAM   (Netherlands)

^f MANCHESTER METROPOLITAN UNIVERSITY   (United Kingdom)

Author keywords

Bethlem myopathy; Collagen; Dystroglycan; Ehlers Danlos syndrome; Extracellular matrix; Inherited connective tissue disorders; Integrin; Laminin; Marfan syndrome; Sarcoglycan; Tenascin; Ulrich congenital muscular dystrophy

Indexed keywords

ALPHA DYSTROGLYCAN; ALPHA7 INTEGRIN; BIGLYCAN; COLLAGEN TYPE 1; COLLAGEN TYPE 13; COLLAGEN TYPE 15; COLLAGEN TYPE 3; COLLAGEN TYPE 5; COLLAGEN TYPE 6; COLLAGEN TYPE 9; DECORIN; DYSTROGLYCAN; ELASTIN; FIBRILLIN; FIBULIN; INTEGRIN; LAMININ; PERLECAN; SARCOGLYCAN; TENASCIN;

CALCIFYING CHONDRODYSTROPHY; CLINICAL FEATURE; CLINICAL STUDY; CONNECTIVE TISSUE DISEASE; CUTIS LAXA; EHLERS DANLOS SYNDROME; EXTRACELLULAR MATRIX; GENE MUTATION; GLYCOSYLATION; HUMAN; MARFAN SYNDROME; MOLECULAR MODEL; MUSCULAR DYSTROPHY; MYOPATHY; NONHUMAN; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; REVIEW; SARCOLEMMA; SCHWARTZ JAMPEL SYNDROME; TURNER SYNDROME;

ANIMALS; CONNECTIVE TISSUE DISEASES; DIAGNOSIS, DIFFERENTIAL; EXTRACELLULAR MATRIX; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MUSCLE PROTEINS; MUSCLE WEAKNESS; MUSCULAR DISEASES;

EID: 53249115097     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.05.017     Document Type: Review

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