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Keyphrases
Autosomal Recessive
100%
Novel mutation
100%
Posterior Column Ataxia with Retinitis pigmentosa
100%
FLVCR1
100%
Proband
28%
Retinitis pigmentosa
28%
Sensory Ataxia
28%
Clinical Data
14%
Pathogenicity
14%
Study Support
14%
Vitamin E
14%
Older Women
14%
Novel Variants
14%
Targeted Sequencing
14%
Phenotypic Spectrum
14%
Patient Condition
14%
Muscle Weakness
14%
Site-directed mutation
14%
Pathogenic Role
14%
Affected Siblings
14%
Mitochondrial DNA Analysis
14%
Peripheral Sensory Neuropathy
14%
Clinical Spectrum
14%
Muscle Atrophy
14%
Genetic Evaluation
14%
Mutation Testing
14%
Pigmentary Retinopathy
14%
Molecular Spectra
14%
Metabolic Evaluation
14%
Sensory Polyneuropathy
14%
Phytanic Acid
14%
Neuroscience
Retinitis pigmentosa
100%
Ataxia
100%
Posterior Column
100%
Autosomal Recessive Disorder
11%
Mitochondrial DNA
11%
Retinal Disease
11%
Polyneuropathy
11%
Vitamin E
11%
Phytanic Acid
11%
Neuropathy
11%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Retinitis pigmentosa
100%
Proband
22%
Autosomal Recessive Disorder
11%
Sensation
11%
DNA Analysis
11%
Genetic Evaluation
11%
Mitochondrial DNA
11%
Vitamin E
11%