Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

Ardicli D., GÖÇMEN R., TALİM B., SPRUTE R., Haliloglu G., ÇIRAK S., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.27, sa.3, ss.239-242, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.nmd.2016.12.008
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.239-242
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing axon guidance in the central nervous system. Congenital mirror movements, either isolated or in association with several genetic syndromes, are defined as inability to perform unimanual movements. We report an adolescent boy with limb-girdle muscular dystrophy due to ADG deficiency and coexisting congenital mirror movements. Genetic work-up revealed a novel homozygous missense mutation in the protein O-inannose kinase (POMK) gene. To our knowledge, this is the first patient in the literature with POMK mutation and congenital mirror movements. (C) 2016 Elsevier B.V. All rights reserved.