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Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France.

Archive ouverte | Davion, Jean-Baptiste | CCSD

International audience. IntroductionHereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other type...

Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies

Archive ouverte | Malfatti, E. | CCSD

International audience

Recessive myopalladin mutations cause congenital cap myopathy with unusual rods

Archive ouverte | Malfatti, E. | CCSD

International audience. To identify the causative gene in three patients presenting progressive congenital myopathy and cap structures in skeletal muscle. Cap myopathy is a rare congenital myopathy characterized by ...

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