Two desmin gene mutations associated with myofibrillar myopathies in Polish families

PLoS ONE

Volumn 9, Issue 12, 2014, Pages

  Fichna, Jakub Piotr ^a   Karolczak, Justyna ^b   Potulska Chromik, Anna ^c   Miszta, Przemyslaw ^d   Berdynski, Mariusz ^a   Sikorska, Agata ^b   Filipek, Slawomir ^d   Redowicz, Maria Jolanta ^b   Kaminska, Anna ^a,c   Zekanowski, Cezary ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b NENCKI INSTITUTE OF EXPERIMENTAL BIOLOGY   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d UNIVERSITY OF WARSAW   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ; CADHERIN; DESMIN; M CADHERIN; MYOSIN HEAVY CHAIN; NUCLEOTIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOINFORMATICS; CELL NUCLEUS; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DESMINOPATHY; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUSCLE BIOPSY; MUSCLE FIBRIL; MYOFIBRILLAR MYOPATHY; MYOPATHY; POLAND; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SIMULATION; YOUNG ADULT; CHEMISTRY; GENETIC ASSOCIATION; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SKELETAL MUSCLE;

ADULT; DESMIN; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MOLECULAR DYNAMICS SIMULATION; MUSCLE FIBERS, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; POLAND; SEQUENCE DELETION; YOUNG ADULT;

EID: 84919935280     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0115470     Document Type: Article

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