Search
myopathy SEPN-related
Classification:
- a group of 4 neuromuscular disorders
a) classic multiminicore disease
b) rigid spine muscular dystrophy 1 syndrome
c) desmin-related myopathy with Mallory body-like inclusions
d) congenital fiber-type disproportion
Genetics:
- associated with defects in SEPN1
Clinical manifestations:
- poor axial muscle strength
- scoliosis & neck weakness
- variable degree of spinal rigidity
- early ventilatory insufficiency
Complications:
- death by respiratory failure
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 602771
References
OMIM :accession 602771