Myofibrillar and distal myopathies
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
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3. Myofibrillar myopathies: state of the art and future developments;Béhin;Rev Neurol (Paris),2015
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1. DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy;Cureus;2023-03-19
2. Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene;Frontiers in Pediatrics;2023-01-16
3. Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function;International Journal of Molecular Sciences;2022-12-14
4. Desmin Myopathy—A Masquerader of Infantile-Onset Pompe Disease;Indian Journal of Pediatrics;2022-07-02
5. Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy;Neuromuscular Disorders;2022-01
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