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

Brain

Volumn 137, Issue 6, 2014, Pages

  Lange, Stephan ^a   Edström, Lars ^b   Udd, Bjarne ^c   Gautel, Mathias ^d  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF HELSINKI   (Finland)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; FN3 119; UNCLASSIFIED DRUG;

ALLELE; AUTOPHAGY; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN MYOPATHY WITH EARLY RESPIRATORY FAILURE; LETTER; MYOPATHY; NONHUMAN; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; PROTEIN METABOLISM; RESPIRATORY FAILURE; SINGLE NUCLEOTIDE POLYMORPHISM; UBIQUITINATION;

FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; PROTEIN KINASES; RESPIRATORY INSUFFICIENCY;

EID: 84901392643     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu033     Document Type: Letter

References (6)

1. Chauveau C, Bonnemann C, Julien C, Kho AL, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 2013; 23: 980-91.
2. Hedberg C, Melberg A, Dahlbom K, Oldfors A. Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2013; Advance Access published on November 14, 2013, doi: 10.1093/brain/awt305.
3. Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005; 308: 1599-603.
4. Palmio J, Evila A, Chapon F, Tasca G, Xiang F, Bradvik B, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry 2014; 85: 345-53.
5. Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2013; Advance Access published on November 21, 2013, doi: 10.1093/brain/awt306.
6. Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2014; 85: 331-8.