Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years-Reference-Cited by-同舟云学术

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

Published:2015-06-04 Issue:2 Volume:2 Page:167-174
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Werlauff U.¹,Petri H.²,Witting N.³,Vissing J.³

Affiliation:

1. The Danish National Rehabilitation Centre for Neuromuscular Diseases, Kongsvang Allé, Aarhus C, Denmark

2. Department of Cardiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

3. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference19 articles.

1. ENMC International Workshop: 7th Workshop on Centronu425 clear (Myotubular) myopathies, 31st May – 2nd June 2013, 426 Naarden, The Netherlands;Jungbluth;Neuromuscul Disord,2013

2. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy;Ceyhan-Birsoy;Neurology,2013

3. MTM1 mutations in X-linked myotubular myopathy;Laporte;Hum Mutat,2000

4. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients;Tanner;Neuromuscul Disord,1999

5. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation;Jungbluth;Neuromuscul Disord,2003

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1. Respiratory features of centronuclear myopathy in the Netherlands;Neuromuscular Disorders;2023-07

2. Structural rationale to understand the effect of disease-associated mutations on Myotubularin;Current Research in Structural Biology;2023

3. Structural rationale to understand the effect of disease-associated mutations on Myotubularin;2022-07-29

4. A dog model for centronuclear myopathy carrying the most common DNM2 mutation;Disease Models & Mechanisms;2022-04-01

5. Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands;Clinical Genetics;2021-09-25

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