ANALYSIS OF THE DYNAMIC MUTATION OF THE MYOTONIN PROTEIN – KINASE (MT.PK) GENE

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG](n) trinucleotide repeats

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  DIFFERENT EXPRESSION OF THE MYOTONIN PROTEIN-KINASE GENE IN DISCRETE AREAS OF HUMAN BRAIN

• JOURNAL OF MEDICAL GENETICS

  MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS

• NEUROMUSCULAR DISORDERS

  DISCORDANT CLINICAL OUTCOME IN MYOTONIC-DYSTROPHY RELATIVES SHOWING (CTG)(N) GREATER-THAN-700 REPEATS