Leigh syndrome: clinical features
Evidence-based neurology checklist on leigh syndrome: clinical features: Genetics The mutations may arise de novo The transmission may be autosomal recessive or X-linked Genetic mutations Onset features Systemic features Neurological features Ophthalmic features Late onset Leigh syndrome…
Genetics
- The mutations may arise de novo
- The transmission may be autosomal recessive or X-linked
Genetic mutations
Onset features
Systemic features
Neurological features
Ophthalmic features
Late onset Leigh syndrome
Differential diagnosis
References
- Baertling F, Rodenburg RJ, Schaper J, et al. A guide to diagnosis and treatment of Leigh syndrome. JNNP 2014; 85:257-265.
- Yang YL, Sun F, Zhang Y, et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Chin Med J (Engl) 2006; 119:373-377.
- Martín MA, Blázquez A, Gutierrez-Solana LG, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol 2005; 62:659-661.
- Lee IC, El-Hattab AW, Wang J, et al. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat 2012; 33:1192-1200.
- Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics 2005; 36:314-318.
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