A Case of Limb-Girdle Muscular Dystrophy Type R29 Presenting with Myocardial Damage as the Initial Manifestation:A case report

Abstract excerpt

<title>Abstract</title> <p>Background Limb-girdle muscular dystrophy autosomal recessive type 29 (LGMDR29) is an exceedingly rare genetic disorder attributed to mutations in the SNUPN gene. The clinical manifestations of this condition are heterogeneous; however, no cases have been documented to date where myocardial damage was the initial presentation in the context of normal motor development. This report aims...

Topics

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• Anemia, Sideroblastic
• Child
• Lipid Metabolism, Inborn Errors
• Mitochondrial Diseases
• Mitochondrial Myopathies
• Mutation
• Myopathies, Structural, Congenital
• Phenotype

Identifiers and source

Literature Corpus work

d6388e20-59a7-5c17-8a0d-33a7b5ce8316

DOI

10.21203/rs.3.rs-8429398/v1