Projet-Myocapture
Abath Neto O. et al.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscul Disord. (2017) Nov. 27(11):975-985.
doi: 10.1016/j.nmd.2017.05.016
Biancalana V. et al.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol. (2017) Dec. 134(6):889-904.
doi: 10.1007/s00401-017-1748-0
Stéphanie Bauché et al.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics 2016, vol. 99, issue 3
doi: 10.1016/j.ajhg.2016.06.033