Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Human Mutation

Volumn 36, Issue 1, 2015, Pages 48-56

  Donkervoort, Sandra ^a   Hu, Ying ^a   Stojkovic, Tanya ^b   Voermans, Nicol C ^c   Foley, A Reghan ^d   Leach, Meganne E ^a,e   Dastgir, Jahannaz ^a   Bolduc, Véronique ^a   Cullup, Thomas ^f   de Becdelièvre, Alix ^b   Yang, Lin ^g   Su, Hai ^g   Meilleur, Katherine ^h   Schindler, Alice B ^a   Kamsteeg, Erik Jan ^c   Richard, Pascale ^b,i,j   Butterfield, Russell J ^k   Winder, Thomas L ^l   Crawford, Thomas O ^m   Weiss, Robert B ^k   Muntoni, Francesco ^d   Allamand, Valérie ^j,n,o,p   Bönnemann, Carsten G ^a   more..

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^f GUY S HOSPITAL   (United Kingdom)

^g J Crayton Pruitt Family Department of Biomedical Engineering   (United States)

^h NATIONAL INSTITUTE OF NURSING RESEARCH   (United States)

ⁱ Sorbonne Universités   (France)

^j SORBONNE UNIVERSITÉ   (France)

^k UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^l Prevention Genetics   (United States)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ INSERM   (France)

^o CNRS   (France)

^p Institut de Myologie   (France)

more..

Author keywords

Bethlem myopathy; COL6A1; COL6A2; COL6A3; Collagen VI; Genetic counseling; Ullrich congenital muscular dystrophy

Indexed keywords

COL6A1 PROTEIN, HUMAN; COL6A2 PROTEIN, HUMAN; COL6A3 PROTEIN, HUMAN; COLLAGEN TYPE 6;

ADOLESCENT; ADULT; AGED; CHILD; CONTRACTURE; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MIDDLE AGED; MOSAICISM; MUSCLE; MUSCULAR DYSTROPHIES; MUTATION; PATHOLOGY; PEDIGREE; SCLEROSIS; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; COLLAGEN TYPE VI; CONTRACTURE; FEMALE; HUMANS; MALE; MIDDLE AGED; MOSAICISM; MUSCLES; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; SCLEROSIS; YOUNG ADULT;

EID: 84920087240     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22691     Document Type: Article

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