Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

R. J. de Vries, B. Jaeger, D. M. E. Hellebrekers, L. Reneman, C. Verhamme, H. J. M. Smeets, M. C. van Maarle, M. de Visser*, F. E. Bleeker

*Corresponding author for this work

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Neuroscience

Biochemistry, Genetics and Molecular Biology