Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Semmler, Anna Lena ^a,b   Sacconi, Sabrina ^c   Bach, J Elisa ^d   Liebe, Claus ^a,b   Bürmann, Jan ^e   Kley, Rudolf A ^f   Ferbert, Andreas ^g   Anderheiden, Roland ^h   Van Den Bergh, Peter ⁱ   Martin, Jean Jacques ^j   De Jonghe, Peter ^j,k,l   Neuen Jacob, Eva ^m   Müller, Oliver ^n,o   Deschauer, Marcus ^p   Bergmann, Markus ^q   Schröder, J Michael ^b   Vorgerd, Matthias ^f   Schulz, Jörg B ^a,r   Weis, Joachim ^b,r   Kress, Wolfram ^d   Claeys, Kristl G ^a,b,r   more..

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c UNIVERSITÉ CÔTE D'AZUR   (France)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e SAARLAND UNIVERSITY   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

^g KLINIKUM KASSEL   (Germany)

^h Klinikum Merzig   (Germany)

ⁱ CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^j UNIVERSITY OF ANTWERP   (Belgium)

^k UNIVERSITY OF ANTWERP   (Belgium)

^l ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^m HEINRICH HEINE UNIVERSITY   (Germany)

ⁿ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^o DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^p MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^q KLINIKUM BREMEN MITTE   (Germany)

^r JARA Translational Brain Medicine   (Germany)

more..

Author keywords

bcl 2 associated athanogene protein 3; Hearing impairment; MFM; Next generation sequencing; Polyneuropathy; Protein aggregation

Indexed keywords

ALPHA CRYSTALLIN; BCL 2 ASSOCIATED ATHANOGENE PROTEIN 3; BETA CRYSTALLIN; CREATINE KINASE; DESMIN; FILAMIN C; FOUR AND A HALF LIM DOMAIN PROTEIN 1; MYOTILIN; PROTEIN; PROTEIN DNAJ; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; BAG3 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DYSPHONIA; EXON; FEMALE; GENE MUTATION; GIANT AXON; HEARING IMPAIRMENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MUSCLE BIOPSY; MYOFIBRILLAR MYOPATHY; NERVE BIOPSY; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYNEUROPATHY; PROTEIN AGGREGATION; RESPIRATORY FAILURE; SEQUENCE ANALYSIS; ADOLESCENT; COMPLICATION; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; MYOPATHY; PATHOLOGY; PEDIGREE; PROCEDURES; SKELETAL MUSCLE; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; APOPTOSIS REGULATORY PROTEINS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84906543280     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0121-9     Document Type: Article

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