Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype

OBJECTIVE: To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers. METHODS: Twelve Brazilian families with XLMTM were molecularly and clinically evaluated. In 2 families, 4 of 6 and 2 of 5 manifes...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Neurol Genet
Glavni autori: Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C., Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2020
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7524580/
https://ncbi.nlm.nih.gov/pubmed/33062893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000513
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items