Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

Neurology. 2007 Mar 20;68(12):962. doi: 10.1212/01.wnl.0000257131.13438.2c.

Authors

Homa Tajsharghi¹, Anders Oldfors, Dominic P Macleod, Michael Swash

Affiliation

¹ Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden.

PMID: 17372140
DOI: 10.1212/01.wnl.0000257131.13438.2c

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cardiac Myosins / genetics*
Cardiomyopathies / genetics*
Cardiomyopathies / metabolism*
Cardiomyopathies / physiopathology
DNA Mutational Analysis
Dyspnea / genetics
Dyspnea / metabolism
Dyspnea / physiopathology
Fatal Outcome
Female
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing
Heart Failure / genetics
Heart Failure / metabolism
Heart Failure / physiopathology
Homozygote
Humans
Male
Middle Aged
Muscular Diseases / genetics*
Muscular Diseases / metabolism*
Muscular Diseases / physiopathology
Mutation / genetics
Myocardium / metabolism
Myocardium / pathology
Myosin Heavy Chains / genetics*
Respiratory Insufficiency / genetics
Respiratory Insufficiency / metabolism
Respiratory Insufficiency / physiopathology
Respiratory Muscles / metabolism
Respiratory Muscles / physiopathology
Respiratory Paralysis / genetics
Respiratory Paralysis / metabolism
Respiratory Paralysis / physiopathology

Substances

Genetic Markers
MYH7 protein, human
Cardiac Myosins
Myosin Heavy Chains