What question did this study set out to answer?

This research aims to present a clinical case of the rare co-occurrence of congenital dysferlinopathy and Marinesco–Sjögren syndrome.

March 7, 2026BMC PediatricsOpen Access

Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review

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Authors

SBSergey N. Bardakov AEAlexey M. Emelin СНС. С. Никитин

Discussion

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Overview

Case report illustrates the combined effects of congenital dysferlinopathy and Marinesco–Sjögren syndrome in a child, suggesting significant muscle damage.

Key Points

This research aims to present a clinical case of the rare co-occurrence of congenital dysferlinopathy and Marinesco–Sjögren syndrome.
Clinical diagnosis followed by magnetic resonance imaging (MRI) and whole-exome sequencing.
Histopathological examination of muscle fibers to identify myopathy signs.
Evaluation of biochemical markers including creatinine phosphokinase (CK) and myoglobin levels.
The patient exhibited key symptoms including hypotonia, motor development delay, and muscle weakness.
MRI revealed significant changes in the gastrocnemius muscle, including edema and hypoplasia of the cerebellum.
Whole-exome sequencing identified compound heterozygous variants in the DYSF gene and a homozygous SIL1 variant.

Cite This Study

Bardakov et al. (2026) studied this question.

synapsesocial.com/papers/69abc1765af8044f7a4ea271 https://doi.org/10.1186/s12887-026-06651-7

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March 7, 2026BMC PediatricsOpen Access

Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review

View Full Paper

Ask AI

Bookmark

Authors

SBSergey N. Bardakov AEAlexey M. Emelin СНС. С. Никитин

Discussion

Member takes

Overview

Case report illustrates the combined effects of congenital dysferlinopathy and Marinesco–Sjögren syndrome in a child, suggesting significant muscle damage.

Key Points

This research aims to present a clinical case of the rare co-occurrence of congenital dysferlinopathy and Marinesco–Sjögren syndrome.
Clinical diagnosis followed by magnetic resonance imaging (MRI) and whole-exome sequencing.
Histopathological examination of muscle fibers to identify myopathy signs.
Evaluation of biochemical markers including creatinine phosphokinase (CK) and myoglobin levels.
The patient exhibited key symptoms including hypotonia, motor development delay, and muscle weakness.
MRI revealed significant changes in the gastrocnemius muscle, including edema and hypoplasia of the cerebellum.
Whole-exome sequencing identified compound heterozygous variants in the DYSF gene and a homozygous SIL1 variant.

Cite This Study

Bardakov et al. (2026) studied this question.

synapsesocial.com/papers/69abc1765af8044f7a4ea271 https://doi.org/10.1186/s12887-026-06651-7

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