Literature DB >> 8552868

Adult onset of nemaline myopathy presenting as respiratory insufficiency.

C Falgà-Tirado1, P Pérez-Pemán, J Ordi-Ros, J M Bofill, E Balcells.   

Abstract

A 49-year-old woman was admitted to the hospital for hypercapnia. Pulmonary function testing showed small lung volumes without parenchymal lung disease. Muscle enzyme levels were normal and the EMG was nonspecific. Finally, muscle biopsy revealed abundant nemaline bodies characteristic of nemaline myopathy. Nasal intermittent pressure ventilation was started with a preset pressure ventilator during sleeping hours with a good response.

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Year:  1995        PMID： 8552868     DOI： 10.1159/000196479

Source DB:  PubMed          Journal:  Respiration        ISSN： 0025-7931            Impact factor:   3.580


  5 in total

Review 1.  Respiratory involvement in inherited primary muscle conditions.

Authors:  N Shahrizaila; W J M Kinnear; A J Wills
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10       Impact factor: 10.154

Review 2.  Diagnosis of muscle diseases presenting with early respiratory failure.

Authors:  Gerald Pfeffer; Marcus Povitz; G John Gibson; Patrick F Chinnery
Journal:  J Neurol       Date:  2014-11-07       Impact factor: 4.849

3.  Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.

Authors:  Josine M de Winter; Charlotte Gineste; Elisa Minardi; Lorenza Brocca; Maira Rossi; Tamara Borsboom; Alan H Beggs; Monique Bernard; David Bendahan; Darren T Hwee; Fady I Malik; Maria Antonietta Pellegrino; Roberto Bottinelli; Julien Gondin; Coen A C Ottenheijm
Journal:  Hum Mol Genet       Date:  2021-06-26       Impact factor: 6.150

4.  Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.

Authors:  Mizuki Ito; Sayuri Shima; Ryunosuke Nagao; Shoko Nakano; Konoka Esaka; Akihiro Ueda; Shingo Maeda; Ryoma Moriya; Masashi Kondo; Kazuyoshi Imaizumi; Seiya Noda; Masahisa Katsuno; Ichizo Nishino; Hirohisa Watanabe
Journal:  Intern Med       Date:  2021-11-13       Impact factor: 1.282

Review 5.  Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.

Authors:  Lukas J Schnitzler; Tobias Schreckenbach; Aleksandra Nadaj-Pakleza; Werner Stenzel; Elisabeth J Rushing; Philip Van Damme; Andreas Ferbert; Susanne Petri; Christian Hartmann; Antje Bornemann; Andreas Meisel; Jens A Petersen; Thomas Tousseyn; Dietmar R Thal; Jens Reimann; Peter De Jonghe; Jean-Jacques Martin; Peter Y Van den Bergh; Jörg B Schulz; Joachim Weis; Kristl G Claeys
Journal:  Orphanet J Rare Dis       Date:  2017-05-11       Impact factor: 4.123
  5 in total

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