Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Neurology

Volumn 81, Issue 14, 2013, Pages 1205-1214

  Ceyhan Birsoy, Ozge ^a   Agrawal, Pankaj B ^a   Hidalgo, Carlos ^b   Schmitz Abe, Klaus ^a   Dechene, Elizabeth T ^a   Swanson, Lindsay C ^a   Soemedi, Rachel ^c   Vasli, Nasim ^d   Iannaccone, Susan T ^e   Shieh, Perry B ^f   Shur, Natasha ^g   Dennison, Jane M ^h,i   Lawlor, Michael W ^h   Laporte, Jocelyn ^d   Markianos, Kyriacos ^a   Fairbrother, William G ^c,j   Granzier, Henk ^b   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

^c BROWN UNIVERSITY   (United States)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e UNIVERSITY OF TEXAS AT DALLAS   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g RHODE ISLAND HOSPITAL   (United States)

^h MEDICAL COLLEGE OF WISCONSIN   (United States)

ⁱ HASBRO CHILDREN'S HOSPITAL   (United States)

^j BROWN UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; MUSCLE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIN1 GENE; CENTRONUCLEAR MYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNM2 GENE; EXOME; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; INDEL MUTATION; MALE; MTM1 GENE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEGRADATION; RNA SPLICING; SCHOOL CHILD; SPLICING DEFECT; TTN GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONNECTIN; DYNAMIN II; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NUCLEAR PROTEINS; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SINGLE-BLIND METHOD; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84886409449     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a6ca62     Document Type: Article

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