scholarly journals Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Brain ◽  
2012 ◽  
Vol 135 (6) ◽  
pp. 1682-1694 ◽  
Author(s):  
Monica Ohlsson ◽  
Carola Hedberg ◽  
Björn Brådvik ◽  
Christopher Lindberg ◽  
Homa Tajsharghi ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain

2014 ◽  
Vol 24 (5) ◽  
pp. 373-379 ◽  
Author(s):  
Carola Hedberg ◽  
Alejandro Gomez Toledo ◽  
Claes M. Gustafsson ◽  
Göran Larson ◽  
Anders Oldfors ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

scholarly journals Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Brain ◽  
2014 ◽  
Vol 137 (6) ◽  
pp. e279-e279 ◽  
Author(s):  
Stephan Lange ◽  
Lars Edström ◽  
Bjarne Udd ◽  
Mathias Gautel
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

scholarly journals Hereditary myopathy with early respiratory failure: occurrence in various populations

2013 ◽  
Vol 85 (3) ◽  
pp. 345-353 ◽  
Author(s):  
J. Palmio ◽  
A. Evila ◽  
F. Chapon ◽  
G. Tasca ◽  
F. Xiang ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

2014 ◽  
Vol 86 (5) ◽  
pp. 483-489 ◽  
Author(s):  
Akinori Uruha ◽  
Yukiko K Hayashi ◽  
Yasushi Oya ◽  
Madoka Mori-Yoshimura ◽  
Masahiro Kanai ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Cytoplasmic Bodies ◽  
Hereditary Myopathy

Titinopathy, an atypical respiratory failure

2020 ◽  
Vol 13 (9) ◽  
pp. e235378
Author(s):  
Joana Morais ◽  
Ana Andrade Oliveira ◽  
Olga Pires ◽  
Inês Burmester ◽  
Maria João Regadas ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Clinical Presentation ◽  
Heterozygous Mutation ◽  
Rimmed Vacuoles ◽  
Non Invasive ◽  
Disease Modifying Therapy ◽  
Distal Muscle ◽  
Non Invasive Ventilation ◽  
Hereditary Myopathy ◽  
Autosomal Dominant Inheritance Pattern

Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytoplasmatic bodies and rimmed vacuoles, suggestive of a hereditary myopathy with early respiratory failure disease. The genetic study confirmed this diagnosis identifying a heterozygous mutation on c.95134T>C (p.Cys31712Arg) in exon 343 in the titin gene. The patient was discharged home under supportive treatment with non-invasive ventilation.

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

2013 ◽  
Vol 23 (9-10) ◽  
pp. 820-821
Author(s):  
J. Palmio ◽  
A. Evila ◽  
G. Tasca ◽  
L. Edstrom ◽  
A. Oldfors ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

2015 ◽  
Vol 25 (2) ◽  
pp. 172-176 ◽  
Author(s):  
Dongyue Yue ◽  
Mingshi Gao ◽  
Wenhua Zhu ◽  
Sushan Luo ◽  
Jianying Xi ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
De Novo ◽  
De Novo Mutation ◽  
New Disease ◽  
Disease Allele ◽  
Hereditary Myopathy

G.O.2 Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

2012 ◽  
Vol 22 (9-10) ◽  
pp. 873
Author(s):  
C. Hedberg ◽  
M. Ohlsson ◽  
B. Brådvik ◽  
C. Lindberg ◽  
H. Tajsharghi ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Hereditary Myopathy

scholarly journals Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

2013 ◽  
Vol 58 (5) ◽  
pp. 259-266 ◽  
Author(s):  
Rumiko Izumi ◽  
Tetsuya Niihori ◽  
Yoko Aoki ◽  
Naoki Suzuki ◽  
Masaaki Kato ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Exome Sequencing ◽  
Hereditary Myopathy
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