MYODRIF is an autosomal recessive myopathy characterized by diaphragmatic defect, respiratory insufficiency, and dysmorphic facies. Five individuals affected by MYODRIF have been described in literature.
MYOD1MYOD1MYODRIF is an autosomal recessive myopathy characterized by diaphragmatic defect, respiratory insufficiency, and dysmorphic facies. Five individuals affected by MYODRIF have been described in literature.