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.

Böhm, J., Chevessier, F., Koch, C., Peche, G., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Pénisson Besnier, I., Nadaj Pakleza, A., Fardeau, M., Joshi, P., Deschauer, M., Romero, N., Eymard, B., Laporte, J., Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1, <<EJMG>>, 2014; 51 (12): 824-833. [doi:10.1136/jmedgenet-2014-102623] [http://hdl.handle.net/10807/60766]

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Ricci, Enzo;
2014

Abstract

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.
2014
Inglese
Böhm, J., Chevessier, F., Koch, C., Peche, G., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Pénisson Besnier, I., Nadaj Pakleza, A., Fardeau, M., Joshi, P., Deschauer, M., Romero, N., Eymard, B., Laporte, J., Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1, <<EJMG>>, 2014; 51 (12): 824-833. [doi:10.1136/jmedgenet-2014-102623] [http://hdl.handle.net/10807/60766]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/60766
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