A novel acta 1 mutation in a patient with nemaline myopathy (2014)
- Authors:
- USP affiliated authors: ZANOTELI, EDMAR - FM ; REED, UMBERTINA CONTI - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA (COMPLICAÇÕES); DOENÇAS NEUROMUSCULARES (ETIOLOGIA); MIOPATIAS CONGÊNITAS ESTRUTURAIS
- Language: Inglês
- Imprenta:
- Source:
- Título: Arquivos de Neuro-Psiquiatria
- ISSN: 0004-282X
- Volume/Número/Paginação/Ano: v. 72, supl. 2, p. 90, res. P-200, 2014
- Conference titles: Congresso Brasileiro de Neurologia
-
ABNT
MARTINS, C. A. et al. A novel acta 1 mutation in a patient with nemaline myopathy. Arquivos de Neuro-Psiquiatria. São Paulo: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 31 dez. 2025. , 2014 -
APA
Martins, C. A., Abath Neto, O. L., Reed, U. C., & Zanoteli, E. (2014). A novel acta 1 mutation in a patient with nemaline myopathy. Arquivos de Neuro-Psiquiatria. São Paulo: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Martins CA, Abath Neto OL, Reed UC, Zanoteli E. A novel acta 1 mutation in a patient with nemaline myopathy. Arquivos de Neuro-Psiquiatria. 2014 ; 72 90.[citado 2025 dez. 31 ] -
Vancouver
Martins CA, Abath Neto OL, Reed UC, Zanoteli E. A novel acta 1 mutation in a patient with nemaline myopathy. Arquivos de Neuro-Psiquiatria. 2014 ; 72 90.[citado 2025 dez. 31 ] - Clinical and histological features of brazilian patients with nemaline myopathy
- RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges
- Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases
- Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy
- Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta]
- Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
- Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
- Atypical phenotype in a case of MYH7 congenital myopathy
- Distrofias musculares e miopatias congênitas
- Molecular analysis of a Brazilian cohort of myotubular and centronuclear myopathy patients
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas