Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Skeletal Muscle

Volumn 1, Issue 1, 2011, Pages

  Lawlor, Michael W ^a   Ottenheijm, Coen A ^b,c   Lehtokari, Vilma Lotta ^d   Cho, Kiyomi ^a   Pelin, Katarina ^e   Wallgren Pettersson, Carina ^d   Granzier, Henk ^b   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

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

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Congenital myopathy; Nebulin; Nemaline myopathy; Nemaline rod (body); Thin filament

Indexed keywords

EID: 84861231735     PISSN: None     EISSN: 20445040     Source Type: Journal    
DOI: 10.1186/2044-5040-1-23     Document Type: Article

References (34)

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