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Combined Oxidative Phosphorylation Deficiency 56
A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that is caused by compound heterozygous mutation in the TAMM41 gene on chromosome 3
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that is caused by compound heterozygous mutation in the TAMM41 gene on chromosome 3
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.