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Congenital talipes equinovarus associated with myotonic dystrophy type 2

✍ Scribed by Dimitri Renard; Francois Rivier; Alain Dimeglio; Pierre Labauge

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
58 KB
Volume
42
Category
Article
ISSN
0148-639X

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## Abstract A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys