Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. [electronic resource]
Producer: 20130809Description: 29 p. digitalISSN:- 1471-2377
- Adolescent
- Adult
- Connectin
- DNA Mutational Analysis
- Disability Evaluation
- Electromyography
- Exome -- genetics
- Family Health
- Female
- Genetic Diseases, Inborn -- diagnosis
- Humans
- Male
- Muscle Proteins -- genetics
- Muscle Strength -- genetics
- Muscle, Skeletal -- diagnostic imaging
- Muscular Diseases -- diagnosis
- Mutation -- genetics
- Polymorphism, Single Nucleotide
- Protein Kinases -- genetics
- Respiratory Insufficiency -- diagnosis
- Tomography, X-Ray Computed
- United States -- ethnology
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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