Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
| Autor: | Renata Gaillyová, Lenka Fajkusová, A. Michenkova, Markéta Hermanová, Radim Mazanec, Petr Vondráček, D. Stary, Jana Sedláčková, Pavel Seeman |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Duchenne muscular dystrophy Electromyography 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease Gene duplication medicine Humans Muscular dystrophy 030304 developmental biology 0303 health sciences Muscle biopsy medicine.diagnostic_test biology business.industry medicine.disease Pedigree Muscular Dystrophy Duchenne Peripheral neuropathy Neurology biology.protein Neurology (clinical) Dystrophin business 030217 neurology & neurosurgery Immunostaining |
| Zdroj: | European Journal of Neurology. 14:1182-1185 |
| ISSN: | 1468-1331 1351-5101 |
| Popis: | We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders--Charcot-Marie-Tooth (CMT) disease type 1A and Duchenne muscular dystrophy (DMD). A phenotypic presentation of this patient included features of both these disorders. Nerve conduction studies revealed demyelinating peripheral neuropathy. Electromyography showed a profound myogenic pattern. The serum creatine kinase level was highly elevated. Muscle biopsy revealed a dystrophic picture with deficient dystrophin immunostaining. CMT1A duplication on chromosome 17p11.2 was found. The frame-shift mutation c.3609-3612delTAAAinsCTT (p.K1204LfsX11) was detected in the dystrophin gene by analysing mRNA isolated from the muscle tissue. The patient inherited both these mutations from his mother. The combination of CMT1A and DMD has not been reported as yet. |
| Databáze: | OpenAIRE |
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