CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
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DOI: 10.1007/s00401-017-1775-x
Abstract: involving the proximal muscles in the lower limbs for Family 1, and early 50s with post-exercise myalgia in the lower limbs for Family 2 (Supplementary Table 1). Histological and ultrastructural analyses of the muscle biopsies… read more here.
Keywords: calsequestrin polymerization; muscle; family; casq1 mutations ... See more keywords