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Nuclear Type Mitochondrial Complex I Deficiency 29
A nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
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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 nuclear type mitochondrial complex I deficiency that is caused by homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
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