LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

Le résumé fourni par la source

Neuromuscular ultrasonography has emerged over the last decade as a useful tool for diagnosing peripheral nerve disorders. It has been studied extensively with a particular focus on the assessment of compression neuropathies. Neuromuscular ultrasonography complements electrodiagnostic studies well by visualizing both the nerve anatomy and surrounding structures, providing useful data that cannot be obtained using the latter methodology only. This review article summarizes and synthesizes the literature focusing on the diagnostic role of neuromuscular ultrasonography in common compression neuropathies of the upper limb. Key Words: Nerve compression syndromes · Ultrasonography · Upper extremity.

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