Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene
| Autor: | Victor V. Ionasescu, Charles Searby, Claudia L. Arberas, Rebecca Ionasescu, Ricardo Reisin, Víctor Ruggieri |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Pathology
medicine.medical_specialty Hypesthesia Physiology Motor nerve Biology medicine.disease Surgery Frameshift mutation Cellular and Molecular Neuroscience Exon Myelin Peripheral neuropathy medicine.anatomical_structure Physiology (medical) Peripheral myelin protein 22 medicine Neurology (clinical) Ulnar nerve |
| Zdroj: | Muscle & Nerve. 20:1308-1310 |
| ISSN: | 1097-4598 0148-639X |
| DOI: | 10.1002/(sici)1097-4598(199710)20:10<1308::aid-mus14>3.0.co;2-z |
| Popis: | A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15-25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text