Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation

Neuromuscular Disorders

Volumn 21, Issue 2, 2011, Pages 148-

  Romero, Norma Beatriz ^a   Bevilacqua, Jorge A ^b   Oldfors, Anders ^c   Fardeau, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF CHILE   (Chile)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE; DNA METHYLTRANSFERASE 2; UNCLASSIFIED DRUG;

CELL SHAPE; CELL ULTRASTRUCTURE; CELLULAR DISTRIBUTION; CENTRONUCLEAR MYOPATHY; GENE MUTATION; HUMAN; LETTER; MITOCHONDRION; MUSCLE CELL; MUSCLE HYPERTROPHY; MUSCLE PSEUDOHYPERTROPHY; NEUTROPENIA; NUCLEAR SHAPE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM;

CELL NUCLEUS; CELLULAR STRUCTURES; DYNAMIN II; HUMANS; HYPERTROPHY; MICROSCOPY, ELECTRON; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NEUTROPENIA; TERMINOLOGY AS TOPIC;

EID: 78751572603     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.11.009     Document Type: Letter

References (3)

1. Liewluck T., Lovell T.L., Bite A.V., Engel A. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation. Neuromuscul Disord 2010, 12:801-804.
2. Bevilacqua J.A., Bitoun M., Biancalana V., et al. " Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol 2009, 117:283-291.
3. Romero N.B. Centronuclear myopathies: a widening concept [Review]. Neuromuscul Disord 2010, 20:223-228.