Description:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Remarks |
Clinically affected; hypertrophic nerves over the neck and elbow; scoliosis; sensory and motor loss distally; affected family members include 6 siblings and 3 children; affected son is GM05149; see GM05146 fibroblast. |
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