Evidence map›Paper›PMID 33062893›Full record

ArticleNeurology. Genetics2020

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 and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.8field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 14 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025
    Article
  6. Review
  7. Article
  8. Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024
    Review
  9. Article
  10. Article
  11. Article
  12. Neurology. Genetics · 2021
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 1 institution in 1 country.

Lucas Santos SouzaHuman 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.
Camila Freitas AlmeidaHuman 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.
Guilherme Lopes YamamotoHuman 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.
Rita de Cássia Mingroni PavanelloHuman 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.
Juliana Gurgel-GiannettiHuman 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.
Silvia Souza da CostaHuman 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.
Isabela Pessa AnequiniHuman 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.
Silvana Amanda do CarmoHuman 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.
Jaqueline Yu Ting WangHuman 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.
Marília de Oliveira ScliarHuman 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.
Erick C CastelliHuman 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.
Paulo Alberto OttoHuman 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.
Edmar ZanoteliHuman 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.
Mariz VainzofHuman 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.
Universidade Federal de Minas Gerais · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers.

methodsTwelve Brazilian families with XLMTM were molecularly and clinically evaluated. In 2 families, 4 of 6 and 2 of 5 manifesting female carriers were identified. These females were studied for X chromosome inactivation. In addition, whole-exome sequencing was performed, looking for possible modifier variants. We also determined the penetrance rate among carriers of the mutations responsible for the condition.

resultsMutations in the

conclusionsAffected XLMTM female carriers have been described with a surprisingly high frequency for a recessive X-linked disease, raising the question about the pattern of inheritance or the role of modifier factors acting on the disease phenotype. We demonstrated the possible existence of genetic mechanisms and variants accountable for the clinical manifestation in these women, which can become future targets for therapies.

Identifiers

PMID33062893
PMCPMC7524580
OpenAlexW3083563075

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