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Congenital myopathies and congenital muscular dystrophies.
Tubridy N, Fontaine B, Eymard B. Tubridy N, et al. Among authors: eymard b. Curr Opin Neurol. 2001 Oct;14(5):575-82. doi: 10.1097/00019052-200110000-00005. Curr Opin Neurol. 2001. PMID: 11562568 Review.
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D. Yasaki E, et al. Among authors: eymard b. Neuromuscul Disord. 2004 Jan;14(1):24-32. doi: 10.1016/j.nmd.2003.07.002. Neuromuscul Disord. 2004. PMID: 14659409
415 results