Myotonic dystrophy and proximal myotonic myopathy
作者： Kenneth Ricker
关键词: Pathology 、 Dominant inheritance 、 Trinucleotide repeat expansion 、 Myotonic dystrophy 、 Proximal myotonic myopathy 、 Diagnostic methods 、 Molecular genetic testing 、 Medicine 、 German population 、 Genetics 、 Anticipation (genetics)
摘要: Myotonic dystrophy (DM) is a well-known multisystem disorder with dominant inheritance. Proximal myotonic myopathy (PROMM) has been defined only recently, it rather similar to but distinct from DM. Molecular genetic testing of the CTG trinucleotide repeat expansion reliable diagnostic method in In PROMM these repeats are normal, and no test so far available. Comparing phenotypes DM PROMM, an important point seems be that more benign disorder. There almost obvious mental changes patients; premature death extremely rare; anticipation appears present milder degree; severe congenital type apparently very rare if occurs at all. On other hand, least German population, frequency may equal
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