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ZASP-related myofibrillar myopathy
Genetics:
1) autosomal dominant
2) associated with defects in LDB3 gene
Clinical manifestations:
1) distal muscle weakness more than proximal muscle weakness
2) cardiomyopathy
3) neuropathy
General
genetic disease of muscle (inherited myopathy)
myofibrillar myopathy
References
UniProt :accession O43679