Phenotype variability in patients with infantile spinal muscular atrophy: Distal muscle weakness and peripheral neuropathy in compound heterozygotes with SMN1 gene deletions
Autor: | Ljerka Cvitanovic-Sojat, Jadranka Sertić, A. Jakovcevic, P. Grdjan, S. Rudnik-Schöneborn, Nina Barišić, Ivan Lehman |
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Rok vydání: | 2017 |
Předmět: |
Genetics
Pathology medicine.medical_specialty business.industry General Medicine SMN1 medicine.disease Compound heterozygosity Gene Deletions Phenotype Infantile spinal muscular atrophy Peripheral neuropathy Pediatrics Perinatology and Child Health medicine In patient Neurology (clinical) business Distal muscle weakness |
Zdroj: | European Journal of Paediatric Neurology. 21:e13 |
ISSN: | 1090-3798 |
Databáze: | OpenAIRE |
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