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Publication
Featured researches published by M. F. Martins.
Clinical Genetics | 2017
Josemar Potêncio de Oliveira; M. F. Martins; R. Pinto Leite; Mário Sousa; Rosário Santos
Next‐generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole‐exome sequencing was performed with variant filtering assuming a recessive disease model. Analysis focused on genes known to be related firstly with congenital myopathies, extended to muscle diseases and finally to other neuromuscular disorders. No disease‐causing variants were identified. A similar disorder was described in patients with recessive variants in two genes: TRIP4 (three families) and ASCC1 (one family), both encoding subunits of the nuclear activating signal cointegrator 1 (ASC‐1) complex. Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra.
Archive | 2018
J. C. do C. Panetto; M. V. G. B. Silva; R. da S. Verneque; M. A. Machado; Auguste Fernandes; M. F. Martins; D. R. de L. Reis; Wagner Arbex; F. A. T. Bruneli; G. G. dos Santos; M. G. C. D. Peixoto; R. S. Maciel; H. T. Ventura; Miréia Aparecida Bezerra Pereira
Prenatal Diagnosis | 2006
Rosário Pinto Leite; Marta Souto; Berta Carvalho; M. F. Martins; Raquel Chaves; Ângela Morais; Henrique Guedes-Pinto; Johannes Wienberg; Eufémia Ribeiro
Archive | 2018
M. de A. R. Cembranelli; G. S. Gonçalves; L. De C. Paiva; M. V. G. B. Silva; M. F. Martins; J. C. do C. Panetto; E. Ferreira Júnior; M. M. Campos; M. A. Machado; D. R. de L. Reis
Archive | 2018
M. V. G. B. Silva; M. F. Martins; M. de A. R. Cembranelli; L. De C. Paiva; J. C. do C. Panetto; M. A. Machado; L. V. Lima; G. S. Gonçalves; D. R. de L. Reis
Archive | 2018
Auguste Fernandes; C. M. A. Pereira; G. R. A. E Oliveira; F. C. Gomes; R. Da S. Maciel; A. E. Vercesi Filho; A. L. Bizinoto; C. R. Moraes; C. H. C. Machado; J. C. do C. Panetto; M. V. G. B. Silva; M. A. Machado; M. F. Martins; D. R. de L. Reis; M. Da C. Xavier
Archive | 2017
M. V. G. B. Silva; M. F. Martins; M. de A. R. Cembranelli; J. C. do C. Panetto; L. De C. Paiva; G. S. Gonçalves; Maysa Machado
Archive | 2017
M. V. G. B. Silva; M. F. Martins; M. de A. R. Cembranelli; L. De C. Paiva; J. C. do C. Panetto; M. A. Machado; L.L. Verardo; G. S. Gonçalves; D. R. de L. Reis; C. F. Mendonça Júnior; F. do A. Braga; C. de A. Franzon
Archive | 2017
M. V. G. B. Silva; M. F. Martins; M. de A. R. Cembranelli; J. C. do C. Panetto; L. De C. Paiva; G. S. Gonçalves; M. A. Machado; B. R. C. Alves
Archive | 2017
M. V. G. B. Silva; M. F. Martins; M. de A. R. Cembranelli; L. De C. Paiva; J. C. do C. Panetto; M. A. Machado; L. V. Lima; G. S. Gonçalves; D. R. de L. Reis