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Article

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

3 Jul 2014

Abstract excerpt

Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29year old SBMA patient with 68 CAGs who had unusually...

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Identifiers

PMID: 25047668
DOI: 10.1016/j.nmd.2014.06.441

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