‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

Author:

Sandell S. M.12,Mahjneh I.34,Palmio J.2,Tasca G.5,Ricci E.6,Udd B. A.278

Affiliation:

1. Department of Neurology; Seinäjoki Central Hospital; Seinäjoki Finland

2. Neuromuscular Research Center; Department of Neurology; University Hospital and University of Tampere, Tampere; Finland

3. Department of Neurology; Pietarsaari District Hospital; Pietarsaari Finland

4. Department of Neurology; University of Oulu; Oulu Finland

5. Don Carlo Gnocchi Onlus Foundation, Rome; Italy

6. Institute of Neurology; Catholic University School of Medicine; Rome Italy

7. Department of Medical Genetics; Folkhälsan Institute of Genetics; University of Helsinki; Helsinki Finland

8. Vaasa Central Hospital; Vaasa Finland

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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1. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12

2. Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model;Human Molecular Genetics;2024-04-15

3. Autosomal Dominant Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

4. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

5. Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4;Acta Neuropathologica;2022-12-13

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