Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

doi:10.1016/j.ejpn.2006.12.007

Article

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2007

Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J, Kitsiou S, Kanavakis E, Fryssira H

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disease characterized by progressive muscle weakness and atrophy combined with motor neuron degeneration caused by mutations in the SMN 1 gene locus (5q11.2-13.2). Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed...

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