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Novel MPZ mutations and congenital hypomyelinating neuropathy
We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve bi...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2952650/ https://ncbi.nlm.nih.gov/pubmed/20621479 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.06.004 |
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