Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. [electronic resource]
Producer: 20070905Description: 235-9 p. digitalISSN:- 1090-3798
- Base Sequence
- Child
- Child, Preschool
- Cyclic AMP Response Element-Binding Protein -- genetics
- DNA Mutational Analysis
- Female
- Humans
- Methyl-CpG-Binding Protein 2 -- genetics
- Molecular Sequence Data
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA-Binding Proteins -- genetics
- Rett Syndrome -- complications
- SMN Complex Proteins
- Spinal Muscular Atrophies of Childhood -- complications
- Survival of Motor Neuron 1 Protein
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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