A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion
Author:
Affiliation:
1. Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of EndocrinologyUniversity of Sao Paolo Medical SchoolSao Paolo Brazil
2. Division of NeurologyUniversity of Sao Paolo Medical SchoolSao Paolo Brazil
Funder
Conselho Nacional de Desenvolvimento Científico e Tecnológico
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.25952
Reference13 articles.
1. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
2. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
3. Nonneural Nuclear Inclusions of Androgen Receptor Protein in Spinal and Bulbar Muscular Atrophy
4. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
5. Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait
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