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A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
BACKGROUND: Charcot-Marie-Tooth disease (CMT) refers to a heterogeneous group of genetic motor and sensory neuropathies. According to the primary site of damage, a distinction is made between demyelinating and axonal forms (CMT1 and 2, respectively, when inherited as an autosomal dominant trait). Le...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4060843/ https://ncbi.nlm.nih.gov/pubmed/24894446 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-14-118 |
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