The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. [electronic resource]
Producer: 20081020Description: 189-91 p. digitalISSN:- 1590-1874
- Adult
- Brain -- pathology
- DNA Mutational Analysis
- Disease Progression
- Female
- GTP-Binding Protein gamma Subunits -- genetics
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- Hereditary Sensory and Motor Neuropathy -- genetics
- Heterozygote
- Humans
- Italy
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Movement Disorders -- genetics
- Muscular Atrophy -- genetics
- Mutation -- genetics
- Peripheral Nerves -- physiopathology
- Phenotype
- Pyramidal Tracts -- physiopathology
- Rare Diseases
- Spastic Paraplegia, Hereditary -- genetics
- Syndrome
No physical items for this record
Publication Type: Case Reports; Journal Article
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