Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

Neuromuscular Disorders

Volumn 17, Issue 7, 2007, Pages 547-557

  Peat, Rachel A ^a   Baker, Naomi L ^b   Jones, Kristi J ^a   North, Kathryn N ^a   Lamandé, Shireen R ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Bethlem myopathy; Collagen VI; Prenatal diagnosis; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN TYPE 6; MESSENGER RNA; MICROCRYSTALLINE COLLAGEN;

ARTICLE; BETHLEM MYOPATHY; CASE REPORT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FETUS; FIBROBLAST; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCULAR DYSTROPHY; PENETRANCE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

CHILD, PRESCHOOL; CODON, NONSENSE; COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENETIC COUNSELING; HUMANS; MALE; MUSCULAR DYSTROPHIES; MUTATION; PENETRANCE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 34250338069     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.03.017     Document Type: Article

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