Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

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Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation. Neuromuscul Disord (2011) 0.76

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results. Neuromuscul Disord (2016) 0.75

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci (2017) 0.75