The myotonic dystrophies: diagnosis and management.

Turner, Chris

The myotonic dystrophies: diagnosis and management. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Apr 2010 - 358-67 p. digital

Publication Type: Journal Article; Review

1468-330X

10.1136/jnnp.2008.158261 doi


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