A case of dysferlinopathy presenting choreic movements
Copyright policy )A case of dysferlinopathy presenting choreic movements
AbstractMutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society
- Tohoku University Japan
- Sendai Nishitaga National Hospital Japan
Male, Neurologic Examination, DNA Mutational Analysis, Homozygote, Nucleotide Mapping, Brain, Membrane Proteins, Muscle Proteins, Middle Aged, Magnetic Resonance Imaging, Muscular Dystrophies, Limb-Girdle, Chorea, Humans, Trypsin, Cysteine, Codon, Mental Status Schedule, Dysferlin
Male, Neurologic Examination, DNA Mutational Analysis, Homozygote, Nucleotide Mapping, Brain, Membrane Proteins, Muscle Proteins, Middle Aged, Magnetic Resonance Imaging, Muscular Dystrophies, Limb-Girdle, Chorea, Humans, Trypsin, Cysteine, Codon, Mental Status Schedule, Dysferlin
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