50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation
MC Walter, M Rossius, M Zitzelsberger… - Neuromuscular …, 2015 - Elsevier
Tubular aggregates in human muscle biopsies have been reported to occur in a variety of
acquired and hereditary neuromuscular conditions since 1964. Recently mutations in the
gene encoding the main calcium sensor in the sarcoplasmic reticulum, stromal interaction
molecule 1 (STIM1), have been identified as a cause of autosomal dominant tubular
aggregate myopathy. We studied a German family with tubular aggregate myopathy and
defined cellular consequences of altered STIM1 function. Both patients in our family had …
acquired and hereditary neuromuscular conditions since 1964. Recently mutations in the
gene encoding the main calcium sensor in the sarcoplasmic reticulum, stromal interaction
molecule 1 (STIM1), have been identified as a cause of autosomal dominant tubular
aggregate myopathy. We studied a German family with tubular aggregate myopathy and
defined cellular consequences of altered STIM1 function. Both patients in our family had …