Search
hereditary myopathy with early respiratory failure; Edstrom myopathy (HMERF)
Genetics:
1) autosomal dominant
2) associated with defects in titin gene
Clinical manifestations:
1) adult-onset myopathy
2) early respiratory muscle involvement
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 603689
References
OMIM :accession 603689