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...

Descripción completa

Detalles Bibliográficos
Autores principales: Nishikawa, Atsuko, Iida, Aritoshi, Hayashi, Shinichiro, Okubo, Mariko, Oya, Yasushi, Yamanaka, Gaku, Takahashi, Ikuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503166/
https://www.ncbi.nlm.nih.gov/pubmed/30884204
http://dx.doi.org/10.1002/mgg3.621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503166/
https://www.ncbi.nlm.nih.gov/pubmed/30884204
http://dx.doi.org/10.1002/mgg3.621

Ejemplares similares