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Journal article

The myotonic dystrophies: diagnosis and management.

Abstract:

There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic features in common. DM1 is the most common form of adult onset muscular dystrophy whereas DM2 tends to have a milder phenotype with later onset of symptoms and i...

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Publication status:
Published

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Publisher copy:
10.1136/jnnp.2008.158261

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Journal:
Journal of neurology, neurosurgery, and psychiatry
Volume:
81
Issue:
4
Pages:
358-367
Publication date:
2010-04-05
DOI:
EISSN:
1468-330X
ISSN:
0022-3050
URN:
uuid:61d801f1-de18-42af-8bab-07296084f8d7
Source identifiers:
241728
Local pid:
pubs:241728

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