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Articles (10)

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1-10 of 10 results for MTM1

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Select article: Congenital Myotubular Myopathy With a Novel MTM1 Gene Mutation in a Premature Infant Presenting With Ventilator Dependency and Intrahepatic Cholestasis

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Case report

First published 2012-1

Congenital Myotubular Myopathy With a Novel MTM1 Gene Mutation in a Premature Infant Presenting With Ventilator Dependency and Intrahepatic Cholestasis

Inn-Chi Lee, Pen-Hua Su, Jia-Yuh Chen [...]

Journal of Child Neurology

Select article: X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation

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Other

First published 2007-04

X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation

Tibor Hortobágyi, Hajnalka Szabó, Krisztián S. Kovács [...]

Journal of Child Neurology

Select article: Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy

Free access

Research article

First published 2015-9

Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy

Hyun Ju Lim, Sunyoung Joo, Seh-Hoon Oh [...]

Cell Transplantation

Select article: Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Free access

Brief report

First published 2018

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Xavière Lornage, Pascal Sabouraud, Béatrice Lannes [...]

Journal of Neuromuscular Diseases

Select article: Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

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Review article

First published

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

U. Werlauff, H. Petri, N. Witting [...]

Journal of Neuromuscular Diseases

Select article: Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy

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Research article

First published 2015-06

Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy

Jessica M. Snyder, Allison Meisner, David Mack [...]

Human Gene Therapy Clinical Development

Select article: Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

Open access

Research article

First published 2021

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

Andrea Gangfuss, Dirk Schmitt, Andreas Roos [...]

Journal of Neuromuscular Diseases

Select article: The Dog Model in the Spotlight: Legacy of a Trustful Cooperation

Open access

Review article

First published 2019

The Dog Model in the Spotlight: Legacy of a Trustful Cooperation

Inès Barthélémy, Christophe Hitte, Laurent Tiret

Journal of Neuromuscular Diseases

Select article: Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study

Open access

Research article

First published 2025-7

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study

S Colombo, BS Cowling, L Eyler [...]

Journal of Neuromuscular Diseases

Select article: Early-Onset Myopathies: Clinical Findings,Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

Free access

Research article

First published 2017

Early-Onset Myopathies: Clinical Findings,Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

K. Vill, A. Blaschek, D. Gläser [...]

Journal of Neuromuscular Diseases

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