Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

@article{Schaaf2011EarlyonsetSN,
  title={Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.},
  author={Christian P Schaaf and Maria E Blazo and Richard Alan Lewis and Ross E Tonini and Hidehiro Takei and Jing Wang and L. J. C. Wong and Fernando Scaglia},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={103 4},
  pages={383-7}
}
INTRODUCTION Pathogenic mutations in the OPA1 gene are the most common identifiable cause of autosomal dominant optic atrophy (DOA), which is characterized by selective retinal ganglion cell loss, a distinctive pattern of temporal pallor of the optic nerve and a typical color vision deficit, with variable effects on visual acuity. Haploinsufficiency has been suggested as the major pathogenic mechanism for DOA. Here we present two siblings with severe ataxia, hypotonia, gastrointestinal… CONTINUE READING