Projet-Myocapture

Echaniz-Laguna A. et al.
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Acta Neuropathol. (2017) Jul.134(1):163-165.
doi: 10.1007/s00401-017-1724-8

Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol. (2017) Apr. 133(4):517-533.
doi: 10.1007/s00401-016-1656-8

Bohm J. et al.
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Human Mutation (2017).Mar. 38 (4): 426-438
doi: 10.1002/humu.23172

Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900

Mercier S. et al.
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
Neurology (2017) Jan. 88(4):414-416.
doi: 10.1212/WNL.0000000000003535

Neto OA. et al.
Nonlethal CHRNA1-related congenital Myasthenic Syndrome with a homozygous null mutation.
Canadian Journal of Neurological Sciences (2017) Jan. 44 (1):125-127
doi: 10.1017/cjn.2016.322