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Tubular Aggregate Myopathy and the STIM1 gene

Posted by gushworth on 20 Apr 2014 at 23:14 GMT

A minor quibble, it is not true to say, "To date, no gene responsible for the pathology has been identified ..." However, given the heterogeneous nature of TAM, it is probably true to say, "No single mutation responsible for the pathology has been identified ..."

See:
Bohm J, Chevessier F, Maues De Paula A, et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 2013;92:271–8 and

A. Oldfors, C. Hedberg, B. Lindvall, M. Tulinius. P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1. Neuromuscular Disorders Vol. 23, Issue 9, Page 822.

No competing interests declared.