Muscle eye brain disease (MEBD)
Evidence-based neurology checklist on muscle eye brain disease (mebd): Genetics POMGnT1 gene mutations The transmission is autosomal recessive Pathology Clinical triad Typical neurological features Atypical neurological features Ophthalmic features Differential diagnosis Magnetic resonance imaging…
Genetics
- POMGnT1 gene mutations
- The transmission is autosomal recessive
Pathology
Clinical triad
Typical neurological features
Atypical neurological features
Ophthalmic features
Differential diagnosis
Magnetic resonance imaging (MRI) brain features
Muscle biopsy
Other investigations
References
- Shenoy AM, Markowitz JA, Bonnemann CG, Krishnamoorthy K, Bossler AD, Tseng BS. Muscle-eye-brain disease. J Clin Neuromuscul Dis 2010; 11:124-126.
- Hehr U, Uyanik G, Gross C, et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics 2007; 8:279-288.
- Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol 1997; 41:173-180.
- Haliloglu G, Gross C, Senbil N, et al. Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. Acta Myol 2004; 23:137-139.
- Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J. Muscle-eye-brain disease (MEB). Brain Dev 1989; 11:147-153.
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