Find Expert Doctors on And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy1 top medical experts on And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy across 0 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Combined Mitochondrial Complex Deficiency, Myopathy With Cataract And Combined Respiratory Chain Deficiency
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