Myosin storage myopathy with cardiomyopathy

Neuromuscular Disorders

Volumn 17, Issue 9-10, 2007, Pages 725-

  Tajsharghi, H ^a   Oldfors, A ^a   Swash, M ^b  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN;

CARDIOMYOPATHY; CARDIOPULMONARY INSUFFICIENCY; GENE MUTATION; HEART LEFT VENTRICLE FAILURE; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; HYPOVENTILATION; LETTER; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL; SLEEP APNEA SYNDROME;

CARDIAC MYOSINS; CARDIOMYOPATHIES; GLUTAMIC ACID; HUMANS; LYSINE; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS;

EID: 34548437413     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.04.011     Document Type: Letter

References (3)

1. Shingde M.V., Spring P.J., Maxwell A., et al. Myosin storage (hyaline body) myopathy: a case report. Neuromuscul Disord 16 (2006) 882-886
2. Tajsharghi H., Oldfors A., MacLeod D.P., and Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology 68 (2007) 392-393
3. Blair E., Redwood C., de Jesus Oliveira M., et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 90 (2002) 263-269