TMEM70 deficiency is a multisystemic disease with a high prevalence of non-progressive cardiomyopathy (89%) and a 63% 10-year survival, heavily dependent on early management of hyperammonaemic crises.
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Early crisis management may improve survival in TMEM70 deficiency; extends prior reports but leaves open prospective cardiomyopathy trials.
Magner et al. (2014) studied this question.
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