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Article

Asymptomatic and oligosymptomatic states of dysferlinopathy.

Journal of neuromuscular diseases - 1 Nov 2024

Bardakov Sergey N, Deev Roman V, Tsargush Vadim A, Kaimonov Vladimir S, Musatova Elizaveta V, Blagodatskikh Konstantin A, Tveleneva Aleksandra A, Sofronova Yana V, Suslov Vasiliy M, Carlier Pierre G, Kurbatov Sergey A, Yakovlev Ivan A, Umakhanova Zoya R, Isaev Artur A

Abstract excerpt

Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric...

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Source

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Identifiers

PMID: 39973465
DOI: 10.1177/22143602241289227
PMCID: PMC13108004

Genes

DYSF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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