Collagen VI related muscle disorders

Journal of Medical Genetics

Volumn 42, Issue 9, 2005, Pages 673-685

  Lampe, Anne K ^a   Bushby, K M D ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6;

AMINO ACID SUBSTITUTION; BETHLEM MYOPATHY; CLINICAL FEATURE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; DIAGNOSTIC IMAGING; DISEASE SEVERITY; FLEXION CONTRACTURE; GENE; GENE MUTATION; GENETIC COUNSELING; HUMAN; JOINT CONTRACTURE; MUSCLE CELL; MUSCLE DISEASE; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; RNA SPLICING; SYMPTOM; ULLRICH CONGENITAL MUSCULAR DYSTROPY;

COLLAGEN TYPE VI; DISTAL MYOPATHIES; GENETIC COUNSELING; GENOMICS; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); MODELS, BIOLOGICAL; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 24944559356     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2002.002311     Document Type: Review

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