Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Neuromuscular Disorders

Volumn 19, Issue 11, 2009, Pages 802-

  Dunand, Murielle ^a   Lobrinus, Johannes A ^a   Jeannet, Pierre Yves ^a   Behin, Anthony ^a   Claeys, Kristl G ^a   Selcen, Duygu ^a   Kuntzer, Thierry ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; BETA CRYSTALLIN; DESMIN; MITOCHONDRIAL DNA;

ATRIOVENTRICULAR BLOCK; CARDIOMYOPATHY; DEFIBRILLATOR; DISTAL MYOPATHY; ELECTROCARDIOGRAM; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HEART LEFT VENTRICLE FUNCTION; HEART MUSCLE BIOPSY; HUMAN; IMMUNOBLOTTING; LETTER; MUSCLE WEAKNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AGED; CARDIOMYOPATHIES; DESMIN; DISTAL MYOPATHIES; FAMILY HEALTH; FEMALE; HUMANS; MUTATION;

EID: 70350064154     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.07.013     Document Type: Letter

References (6)

1. Lobrinus J.A., Janzer R.C., Kuntzer T., et al. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. Neuromuscul Disord 8 (1998) 77-86
2. Meune C., Van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 354 (2006) 209-210
3. Goldfarb L.G., Vicart P., Goebel H.H., et al. Desmin myopathy. Brain 127 (2002) 723-734
4. Muñoz-Mármol A.M., Strasser G., Isamat M., et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 95 (1998) 11312-11317
5. Clemen C.S., Fischer D., Reimann J., et al. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy. Hum Mutat 30 3 (2009) E490-E499
6. Selcen D., and Engel A.G. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 54 (2003) 804-810