B

 

Behr sendromu 

Kalıtsal  -  AR

Sistemik nörolojik bulgular

Motor gelişme geriliği

Spastik yapı

Serebellum atrofisi

Aksonal sensorimotor nöropati

 

  • Gordon BA, Rupar CA, Rip JW, et al. Aspartylglucosaminuria in a Canadian family. Clinical & Investigative Medicine, 21: 114-123, 1998

  • Arvio P, Arvio M, Kero M, et al. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. Journal of Medical Genetics, 36: 398-404, 1999

  • Copeliovitch L, Katz K, Arbel N, et al. Musculoskeletal deformities in Behr syndrome. Journal of Pediatric Orthopedics, 21: 512-514, 2001

  • Yu-Wai-Man Pi Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133: 771-786, 2010