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Journal Article
Journal Article
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BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2019, Volume 1865, Issue 1, pp. 48 - 55
Journal Article
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2019, Volume 29, Issue 10, pp. 747 - 757
Diagnosis of inherited myopathies can be a challenging and lengthy process due to broad genetic and phenotypic heterogeneity. In this study we applied focused... 
Distal myopathy | Inherited myopathies | Molecular diagnosis | Next generation sequencing | SUBSTITUTION | DIAGNOSIS | MITOCHONDRIA |