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October 2020; 6 (5) ArticleOpen Access

Manifesting carriers of X-linked myotubular myopathy

Genetic modifiers modulating the phenotype

Lucas Santos Souza, Camila Freitas Almeida, Guilherme Lopes Yamamoto, Rita de Cássia Mingroni Pavanello, Juliana Gurgel-Giannetti, Silvia Souza da Costa, Isabela Pessa Anequini, Silvana Amanda do Carmo, Jaqueline Yu Ting Wang, Marília de Oliveira Scliar, Erick C. Castelli, Paulo Alberto Otto, Edmar Zanoteli, Mariz Vainzof
First published September 4, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000513
Lucas Santos Souza
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Camila Freitas Almeida
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Guilherme Lopes Yamamoto
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Rita de Cássia Mingroni Pavanello
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Juliana Gurgel-Giannetti
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Silvia Souza da Costa
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Isabela Pessa Anequini
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Silvana Amanda do Carmo
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Jaqueline Yu Ting Wang
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Marília de Oliveira Scliar
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Erick C. Castelli
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Paulo Alberto Otto
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Edmar Zanoteli
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Mariz Vainzof
From the Human Genome and Stem Cell Research Center (L.S.S., C.F.A., G.L.Y., R.d.C.M.P., S.S.d.C., I.P.A., S.A.d.C., J.Y.T.W., M.d.O.S., P.A.O., M.V.), University of São Paulo; Department of Pediatrics (J.G.-G.), Medical School of Federal University of Minas Gerais, Belo Horizonte; Pathology Department (E.C.C.), School of Medicine, São Paulo State University (UNESP), Botucatu; and Department of Neurology (E.Z.), Medical School (FMUSP), University of São Paulo, Brazil.
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Full PDF
Citation
Manifesting carriers of X-linked myotubular myopathy
Genetic modifiers modulating the phenotype
Lucas Santos Souza, Camila Freitas Almeida, Guilherme Lopes Yamamoto, Rita de Cássia Mingroni Pavanello, Juliana Gurgel-Giannetti, Silvia Souza da Costa, Isabela Pessa Anequini, Silvana Amanda do Carmo, Jaqueline Yu Ting Wang, Marília de Oliveira Scliar, Erick C. Castelli, Paulo Alberto Otto, Edmar Zanoteli, Mariz Vainzof
Neurol Genet Oct 2020, 6 (5) e513; DOI: 10.1212/NXG.0000000000000513

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    Figure 1 Pedigree from family 1

    We identified 4 affected females (black filled circles), 2 nonmanifesting carriers (indicated by a black dot inside the circle), and 1 affected female with a mild phenotype (indicated by a gray filled circle). Deceased individuals are indicated by an oblique line.

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    Figure 2 Pedigree from family 12

    We identified 1 affected young boy (black filled square) and the 5 identified carriers from this family: 2 manifesting carriers (indicated by gray filled circles) and 3 nonmanifesting carriers (indicated by a black dot inside the circle). Deceased individuals are indicated by an oblique line.

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