Abstract
1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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AMP Deaminase / genetics
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Cerebellar Diseases / genetics*
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Cerebellar Diseases / pathology
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Genetic Testing / methods*
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Genetic Testing / standards
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Humans
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Mutation
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Paraplegia / genetics*
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Paraplegia / pathology
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Sensitivity and Specificity
Substances
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AMP Deaminase
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AMPD2 protein, human
Supplementary concepts
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Pontocerebellar Hypoplasia