Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
JB Noury, J Böhm, GA Peche, L Guyant-Marechal… - Neuromuscular …, 2017 - Elsevier
STIM1 is a reticular Ca 2+ sensor composed of a luminal and a cytosolic domain. Missense
mutations in the luminal domain have been associated with tubular aggregate myopathy
(TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease
associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and
dyslexia. Here we present the case of a 41-year-old female complaining of exercise
intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness …
mutations in the luminal domain have been associated with tubular aggregate myopathy
(TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease
associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and
dyslexia. Here we present the case of a 41-year-old female complaining of exercise
intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness …