Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Giordano C, Powell H, Leopizzi M, De Curtis M, de Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G
Neurology (2009), Volume 72, Page 1103
PubMed entry Full article text Publisher's site

Polymerases:

Human Pol gamma G848S,Human Pol gamma R227W

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