Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

BACKGROUND: X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1). METHODS: Evaluation of clinical...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: Nishikawa, Atsuko, Iida, Aritoshi, Hayashi, Shinichiro, Okubo, Mariko, Oya, Yasushi, Yamanaka, Gaku, Takahashi, Ikuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503166/
https://ncbi.nlm.nih.gov/pubmed/30884204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.621
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares