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Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Archive ouverte | Ávila-Polo, Rainiero | CCSD

International audience. Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the...

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Archive ouverte | Bauché, Stéphanie | CCSD

International audience. Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndr...

MYH7 -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

Archive ouverte | Bahout, Marie | CCSD

Correspondence to Professor Edoardo Malfatti; edoardo.malfatti@aphp.fr. International audience. Background Myosin heavy chain 7 ( MYH7 )-related myopathies ( MYH7 -RMs) are a group of muscle disorders linked to path...

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