Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Molecular Neurobiology

Volumn 54, Issue 9, 2017, Pages 7212-7223

  Evilä, Anni ^a   Palmio, Johanna ^b   Vihola, Anna ^a   Savarese, Marco ^a,c   Tasca, Giorgio ^d,e   Penttilä, Sini ^b   Lehtinen, Sara ^b   Jonson, Per Harald ^a   De Bleecker, Jan ^f   Rainer, Peter ^g   Auer Grumbach, Michaela ^h   Pouget, Jean ⁱ   Salort Campana, Emmanuelle ^j   Vilchez, Juan J ^j,k   Muelas, Nuria ^j,k   Olive, Montse ^l   Hackman, Peter ^a   Udd, Bjarne ^a,b,m  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^e IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^f Algemeen Ziekenhuis Sint Lucas Gent   (Belgium)

^g MEDICAL UNIVERSITY OF GRAZ   (Austria)

^h MEDICAL UNIVERSITY OF VIENNA   (Austria)

ⁱ AIX MARSEILLE UNIVERSITY   (France)

^j HOSPITAL UNIVERSITARIO LA FE   (Spain)

^k CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^l HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^m VAASA CENTRAL HOSPITAL   (Finland)

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Author keywords

Distal myopathy; Titin; Titinopathy; TTN

Indexed keywords

CONNECTIN; TTN PROTEIN, HUMAN;

ADULT; ALBANIA; ARTICLE; BELGIAN; BELGIUM; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FAMILY ASSESSMENT; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IRAN; MALE; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; ONSET AGE; PEDIGREE ANALYSIS; SPAIN; TIBIAL MUSCULAR DYSTROPHY; TTN GENE; TUNISIA; YOUNG ADULT; DIAGNOSTIC IMAGING; DISTAL MYOPATHY; DNA SEQUENCE; GENE TARGETING; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PEDIGREE; PROCEDURES;

CONNECTIN; DISTAL MYOPATHIES; FEMALE; GENE TARGETING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84992709474     PISSN: 08937648     EISSN: 15591182     Source Type: Journal    
DOI: 10.1007/s12035-016-0242-3     Document Type: Article

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