The challenging diagnosis of dysferlinopathy – a case report

Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype....

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Bibliographic Details
Main Authors: Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2021-06-01
Series:Romanian Journal of Neurology
Subjects:
Online Access:https://rjn.com.ro/articles/2021.2/RJN_2021_2_Art-23.pdf