Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

Human Mutation

Volumn 35, Issue 7, 2014, Pages 868-879

  Lamont, Phillipa J ^a,b   Wallefeld, William ^b   Hilton Jones, David ^c   Udd, Bjarne ^d,e,f   Argov, Zohar ^g   Barboi, Alexandru C ^h   Bonneman, Carsten ⁱ   Boycott, Kym M ^j   Bushby, Kate ^k   Connolly, Anne M ^l   Davies, Nicholas ^m   Beggs, Alan H ⁿ   Cox, Gerald F ⁿ   Dastgir, Jahannaz ⁱ   Dechene, Elizabeth T ^o   Gooding, Rebecca ^b   Jungbluth, Heinz ^p,q,r   Muelas, Nuria ^s,t   Palmio, Johanna ^d   Penttilä, Sini ^d   Schmedding, Eric ^u   Suominen, Tiina ^d   Straub, Volker ^k   Staples, Christopher ^v   Van den Bergh, Peter Y K ^w   Vilchez, Juan J ^s,t   Wagner, Kathryn R ^x   Wheeler, Patricia G ^y   Wraige, Elizabeth ^m   Laing, Nigel G ^b,z   more..

^a ROYAL PERTH HOSPITAL   (Australia)

^b PATHWEST LABORATORY MEDICINE   (Australia)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

^f VAASA CENTRAL HOSPITAL   (Finland)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^h RUSH MEDICAL COLLEGE   (United States)

ⁱ NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^j CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^k INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^p ST THOMAS HOSPITAL   (United Kingdom)

^q KING'S COLLEGE LONDON   (United Kingdom)

^r KING'S COLLEGE LONDON   (United Kingdom)

^s HOSPITAL UNIVERSITARIO LA FE   (Spain)

^t CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^u UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^v Department of Neurology Mater Adult and Womens Hospital ^*  (Australia)

^w CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

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

^y NEMOURS CHILDREN S HOSPITAL   (United States)

^z UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

more..

Author keywords

Laing distal myopathy; MPD1; MYH7

Indexed keywords

MYH7 PROTEIN; MYOSIN HEAVY CHAIN BETA; UNCLASSIFIED DRUG; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL FEATURE; DISTAL MYOPATHY; FAMILY; FATHER; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INFANCY; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MUSCLE BIOPSY; MUSCLE RIGIDITY; MUSCLE WEAKNESS; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SKELETAL MUSCLE; WALKING; BIOPSY; CHILD; DISTAL MYOPATHIES; GENETICS; IMMUNOHISTOCHEMISTRY; INFANT; METABOLISM; MIDDLE AGED; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; BIOPSY; CARDIAC MYOSINS; CHILD; CHILD, PRESCHOOL; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOSIN HEAVY CHAINS; PHENOTYPE; YOUNG ADULT;

EID: 84902006632     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22553     Document Type: Article

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