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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
OBJECTIVE: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS: Patients with a phenotype suggestive of a motor, non–length-dependent...
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Publicado no: | Neurology |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Lippincott Williams & Wilkins
2015
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4336105/ https://ncbi.nlm.nih.gov/pubmed/25609763 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001269 |
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