TY - JOUR
T1 - Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
AU - Böhm, Johann
AU - Chevessier, Frédéric
AU - Koch, Catherine
AU - Peche, G. Arielle
AU - Mora, Marina
AU - Morandi, Lucia
AU - Pasanisi, Barbara
AU - Moroni, Isabella
AU - Tasca, Giorgio
AU - Fattori, Fabiana
AU - Ricci, Enzo
AU - Pénisson-Besnier, Isabelle
AU - Nadaj-Pakleza, Aleksandra
AU - Fardeau, Michel
AU - Joshi, Pushpa Raj
AU - Deschauer, Marcus
AU - Romero, Norma Beatriz
AU - Eymard, Bruno
AU - Laporte, Jocelyn
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Genetic screening/counselling
KW - Molecular genetics
KW - Muscle disease
KW - Genetic screening/counselling
KW - Molecular genetics
KW - Muscle disease
UR - http://hdl.handle.net/10807/60766
U2 - 10.1136/jmedgenet-2014-102623
DO - 10.1136/jmedgenet-2014-102623
M3 - Article
SN - 1468-6244
VL - 51
SP - 824
EP - 833
JO - EJMG
JF - EJMG
ER -