Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

Journal of Structural Biology

Volumn 170, Issue 2, 2010, Pages 334-343

  Ottenheijm, Coen A C ^a,b   Hooijman, Pleuni ^a   DeChene, Elizabeth T ^c   Stienen, Ger J ^a   Beggs, Alan H ^c   Granzier, Henk ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cross bridge cycling; Muscle weakness; Nebulin; Nemaline myopathy; Thin filament length

Indexed keywords

NEBULIN;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MALE; MUSCLE CONTRACTILITY; MUSCLE FORCE; MUSCLE TONE; MUSCLE WEAKNESS; MYOFILAMENT; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; THIN FILAMENT;

ADULT; ANIMALS; CALCIUM; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MICROFILAMENTS; MIDDLE AGED; MUSCLE CONTRACTION; MUSCLE FIBERS, SKELETAL; MUSCLE PROTEINS; MUTATION; MYOPATHIES, NEMALINE; STRESS, MECHANICAL;

EID: 77951974414     PISSN: 10478477     EISSN: 10958657     Source Type: Journal    
DOI: 10.1016/j.jsb.2009.11.013     Document Type: Article

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