[HTML][HTML] Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
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 29 year old SBMA patient with 68 CAGs who had unusually early onset and
findings not seen in others with the disease. Analysis of the androgen receptor gene …
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 29 year old SBMA patient with 68 CAGs who had unusually early onset and
findings not seen in others with the disease. Analysis of the androgen receptor gene …
