Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
1 Department of Pathology, University of Gothenburg, Gothenburg, Sweden.
Carola
C
Hedberg
Atle
A
Melberg
Kathe
K
Dahlbom
Anders
A
Oldfors
D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000150:complications* / Q000235:genetics*
D009124:Muscle Proteins; D011494:Protein Kinases