The myotonic dystrophies: diagnosis and management. [electronic resource]
Producer: 20100426Description: 358-67 p. digitalISSN:- 1468-330X
- Blotting, Southern
- Chromosomes, Human, Pair 19 -- genetics
- Creatine -- metabolism
- DNA Sequence, Unstable -- genetics
- Dehydroepiandrosterone -- metabolism
- Diagnosis, Differential
- Facial Expression
- Female
- Genetic Therapy -- methods
- Humans
- Insulin-Like Growth Factor Binding Protein 1 -- metabolism
- Muscle, Skeletal -- enzymology
- Myotonic Dystrophy -- diagnosis
- Myotonin-Protein Kinase
- Point Mutation -- genetics
- Pregnancy
- Prenatal Diagnosis
- Prognosis
- Protein Serine-Threonine Kinases -- genetics
- RNA Splicing -- genetics
- Trinucleotide Repeat Expansion -- genetics
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Publication Type: Journal Article; Review
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