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  • Title: A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.
    Author: Echaniz-Laguna A, Rousso E, Anheim M, Cossée M, Tranchant C.
    Journal: Neurology; 2005 Apr 26; 64(8):1458-60. PubMed ID: 15851746.
    Abstract:
    Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.
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