Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

Journal of Human Genetics

Volumn 58, Issue 5, 2013, Pages 259-266

  Izumi, Rumiko ^a   Niihori, Tetsuya ^a   Aoki, Yoko ^a   Suzuki, Naoki ^a   Kato, Masaaki ^a   Warita, Hitoshi ^a   Takahashi, Toshiaki ^b   Tateyama, Maki ^a   Nagashima, Takeshi ^c   Funayama, Ryo ^c   Abe, Koji ^d   Nakayama, Keiko ^c   Aoki, Masashi ^a   Matsubara, Yoichi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Hospital Organization Sendai Nishitaga Hospital   (Japan)

^c TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

A band; cytoplasmic body; Fn3 domain; hereditary myopathy with early respiratory failure; HMERF; myofibrillar myopathy; titin; TTN

Indexed keywords

CONNECTIN; GLYCINE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; EXOME; EXOME SEQUENCING; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC SCREENING; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HUMAN; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEUROMUSCULAR DISEASE; NONINVASIVE VENTILATION; PATHOPHYSIOLOGY; PROTEIN DOMAIN; RESPIRATORY FAILURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; BIOPSY; CONNECTIN; EXOME; FEMALE; GENE FREQUENCY; GENETIC DISEASES, INBORN; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; RESPIRATORY INSUFFICIENCY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84878541658     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.9     Document Type: Article

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