Article
Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle.
Neurology - 13 Apr 2004
Molon A, Di Giovanni S, Chen Y W, Clarkson P M, Angelini C, Pegoraro E, Hoffman E P
Abstract excerpt
OBJECTIVE: To investigate the molecular pathways disrupted by dominant spastin mutations in apparently unaffected skeletal muscle from patients with motor neuron disease (SPG4). METHODS: The authors studied muscle of three individuals from two unrelated families affected by spastic paraplegia caused by spastin mutations. The authors compared RNA expression profiles to 7 normal and 13 pathologic muscle U95A...
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