Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Proximal Myotonic Myopathy Syndrome in the Absence of Trinucleotide Repeat Expansions
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Myotonic Dystrophy
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The Cerebrohepatorenal (Zellweger) Syndrome
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