Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Spinal muscular atrophy

Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.


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PMID (PMCID)
17276711
 FEMALE Child
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J, Kitsiou S, Kanavakis E, Fryssira H.
Eur J Paediatr Neurol. 2007;11(4):235-9.
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.