Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Human Mutation

Volumn 35, Issue 7, 2014, Pages 779-790

  Marttila, Minttu ^a   Lehtokari, Vilma Lotta ^a   Marston, Steven ^b   Nyman, Tuula A ^c   Barnerias, Christine ^d   Beggs, Alan H ^e   Bertini, Enrico ^f   Ceyhan Birsoy, Özge ^e   Cintas, Pascal ^g   Gerard, Marion ^h   Gilbert Dussardier, Brigitte ⁱ   Hogue, Jacob S ^j   Longman, Cheryl ^k   Eymard, Bruno ^l   Frydman, Moshe ^m   Kang, Peter B ^e   Klinge, Lars ⁿ   Kolski, Hanna ^o   Lochmüller, Hans ^p   Magy, Laurent ^q   Manel, Véronique ^r   Mayer, Michèle ^s   Mercuri, Eugenio ^t   North, Kathryn N ^u   Peudenier Robert, Sylviane ^v   Pihko, Helena ^w   Probst, Frank J ^x   Reisin, Ricardo ^y   Stewart, Willie ^z   Taratuto, Ana Lia ^aa   de Visser, Marianne ^ab   Wilichowski, Ekkehard ^ac   Winer, John ^ad   Nowak, Kristen ^ae   Laing, Nigel G ^ae   Winder, Tom L ^af   Monnier, Nicole ^ag   Clarke, Nigel F ^ah   Pelin, Katarina ^ai   Grönholm, Mikaela ^ai   Wallgren Pettersson, Carina ^a   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^c UNIVERSITY OF HELSINKI   (Finland)

^d Section of Radiology   (France)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g TOULOUSE UNIVERSITY HOSPITAL   (France)

^h CHU Clemenceau   (France)

ⁱ POITIERS UNIVERSITY HOSPITAL   (France)

^j SAN ANTONIO MILITARY MEDICAL CENTER   (United States)

^k West of Scotland Regional Genetics Service   (United Kingdom)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m TEL AVIV UNIVERSITY   (Israel)

ⁿ UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^o UNIVERSITY OF ALBERTA   (Canada)

^p NEWCASTLE UNIVERSITY   (United Kingdom)

^q LIMOGES UNIVERSITY HOSPITAL   (France)

^r HOSPICES CIVILS DE LYON   (France)

^s ARMAND TROUSSEAU HOSPITAL   (France)

^t CATHOLIC UNIVERSITY   (Italy)

^u MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^v BREST UNIVERSITY HOSPITAL   (France)

^w HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^x BAYLOR COLLEGE OF MEDICINE   (United States)

^y HOSPITAL BRITÁNICO DE BUENOS AIRES   (Argentina)

^z SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^aa FLENI   (Argentina)

^ab ACADEMIC MEDICAL CENTER   (Netherlands)

^ac UNIVERSITY OF GÖTTINGEN   (Germany)

^ad QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^ae UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^af Prevention Genetics   (United States)

^ag GRENOBLE UNIVERSITY HOSPITAL   (France)

^ah UNIVERSITY OF SYDNEY   (Australia)

^ai UNIVERSITY OF HELSINKI   (Finland)

more..

Author keywords

Actin; Congenital myopathy; Genotype phenotype correlation; Hypercontractile phenotype; TPM2; TPM3

Indexed keywords

CALCIUM ION; TROPOMYOSIN; ACTIN; PROTEIN BINDING; TPM2 PROTEIN, HUMAN; TPM3 PROTEIN, HUMAN;

ARTICLE; CONGENITAL DISORDER; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MUSCLE DISEASE; HUMAN; JAW DISEASE; LIMB DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUSCLE CONTRACTURE; MYOPATHY; NEMALINE MYOPATHY; PATHOGENICITY; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; TPM2 GENE; TPM3 GENE; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHEMISTRY; CHILD; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; INFANT; METABOLISM; MOLECULAR GENETICS; MUSCULAR DISEASES; MUTATION; PATHOLOGY; PHOSPHORYLATION; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; SKELETAL MUSCLE; YOUNG ADULT;

ACTINS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PHENOTYPE; PHOSPHORYLATION; PROTEIN BINDING; SEQUENCE ALIGNMENT; TROPOMYOSIN; YOUNG ADULT;

EID: 84902003297     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22554     Document Type: Article

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