A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 219-228

  Kierdaszuk, Biruta ^a   Berdynski, Mariusz ^b   Karolczak, Justyna ^c   Redowicz, Maria Jolanta ^c   Zekanowski, Cezary ^b   Kaminska, Anna M ^a,b  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c NENCKI INSTITUTE OF EXPERIMENTAL BIOLOGY   (Poland)

Author keywords

Centronuclear myopathy; DNM2 gene; Dynamin; Dystrophin; Muscle biopsy; Myosin VI

Indexed keywords

DNM2 PROTEIN; DYNAMIN II; MEMBRANE PROTEIN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOCHEMICAL ANALYSIS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL NUCLEUS; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DNM2 GENE; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE WEAKNESS; ONSET AGE; POLISH CITIZEN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SKELETAL MUSCLE; SYMPTOM; GENETIC SCREENING; GENETICS; METABOLISM; MUTATION; MYOPATHY; PATHOLOGY; PEDIGREE; PHENOTYPE;

DISEASE PROGRESSION; DYNAMIN II; FEMALE; GENETIC TESTING; HUMANS; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; PHENOTYPE;

EID: 85027945738     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.12.007     Document Type: Article

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