3 research outputs found
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Tubular aggregate myopathies (TAMs) are muscle disorders characterised by abnormal accumulations of densely packed single-walled or double-walled membrane tubules in muscle fibres. Recently, STIM1, encoding a major calcium sensor of the endoplasmic reticulum, was identified as a TAM gene