A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion

Muscle Nerve. 2018 Jan;57(1):E95-E97. doi: 10.1002/mus.25952. Epub 2017 Sep 18.

Affiliations

¹ Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, University of Sao Paolo Medical School, Sao Paolo, Brazil.
² Division of Neurology, University of Sao Paolo Medical School, Sao Paolo, Brazil.

PMID: 28877561
DOI: 10.1002/mus.25952

No abstract available

Keywords: Kennedy disease; X-linked muscular atrophy; androgen receptor gene; cardiomyopathy; testicular failure.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Bulbo-Spinal Atrophy, X-Linked / genetics*
Bulbo-Spinal Atrophy, X-Linked / physiopathology
Exons / genetics
Hormones / metabolism
Humans
Longitudinal Studies
Male
Middle Aged
Receptors, Androgen / genetics*
Trinucleotide Repeat Expansion / genetics*

Substances

Hormones
Receptors, Androgen