An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation-Reference-Cited by-同舟云学术

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation

Published:2010-11 Issue:11 Volume:20 Page:730-734
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Tasca Giorgio,Mirabella Massimiliano,Broccolini Aldobrando,Monforte Mauro,Sabatelli Mario,Biscione Gian Luca,Piluso Giulio,Gualandi Francesca,Tonali Pietro Attilio,Udd Bjarne,Ricci Enzo

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference20 articles.

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2. Familial myopathy with “cytoplasmic body” (or “spheroid”) type inclusions, disclosed by respiratory insufficiency (in French);Chapon;Rev Neurol (Paris),1989

3. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q;Nicolao;Am J Hum Genet,1999

4. The kinase domain of titin controls muscle gene expression and protein turnover;Lange;Science,2005

5. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21;Xiang;Neuromuscul Disord,1999

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