Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases (2020)
- Authors:
- USP affiliated authors: REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1016/j.nmd.2019.11.001
- Subjects: BIOPOLÍMEROS; MIOPATIAS CONGÊNITAS ESTRUTURAIS; ESTUDO DE CASO
- Language: Inglês
- Imprenta:
- Source:
- Título: Neuromuscular disorders
- ISSN: 0960-8966
- Volume/Número/Paginação/Ano: v. 30, n. 1, p. 54-58, 2020
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
MORENO, Cristiane Araujo Martins et al. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases. Neuromuscular disorders, v. 30, n. 1, p. 54-58, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2019.11.001. Acesso em: 31 dez. 2025. -
APA
Moreno, C. A. M., Estephan, E. de P., Fappi, A., Monges, S., Lubieniecki, F., Abath Neto, O. L., et al. (2020). Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases. Neuromuscular disorders, 30( 1), 54-58. doi:10.1016/j.nmd.2019.11.001 -
NLM
Moreno CAM, Estephan E de P, Fappi A, Monges S, Lubieniecki F, Abath Neto OL, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases [Internet]. Neuromuscular disorders. 2020 ; 30( 1): 54-58.[citado 2025 dez. 31 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001 -
Vancouver
Moreno CAM, Estephan E de P, Fappi A, Monges S, Lubieniecki F, Abath Neto OL, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E. Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases [Internet]. Neuromuscular disorders. 2020 ; 30( 1): 54-58.[citado 2025 dez. 31 ] Available from: https://doi.org/10.1016/j.nmd.2019.11.001 - A novel acta 1 mutation in a patient with nemaline myopathy
- Clinical and histological features of brazilian patients with nemaline myopathy
- RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges
- 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
Informações sobre o DOI: 10.1016/j.nmd.2019.11.001 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
