MYBPC1-Associated Congenital Myopathy with Tremor: Clinical and Pathological Phenotype

A detailed case report describes the clinical and pathological phenotype of a young Italian woman with a heterozygous MYBPC1 gene variant. The report includes clinical observations, laboratory test results, electromyography, muscle MRI, polygraphic tremor analysis, and muscle biopsy findings. The data was published by Daniele Velardo on figshare under a CC-BY-4.0 license in May 2026.

Use Cases

• Characterizing the clinical spectrum of MYBPC1-associated disorders based on detailed case descriptions.
• Investigating genotype-phenotype correlations for the MYBPC1 gene based on reported genetic variants and clinical features.
• Studying the pathological features of congenital myopathy based on described muscle biopsy results.
• Analyzing tremor characteristics in neuromuscular diseases based on polygraphic analysis data.
• Exploring potential hormonal influences on myopathic symptoms based on the clinical observations noted in the report.

Strengths

• Provides a detailed, multi-faceted clinical case report including genetic, electrophysiological, imaging, and pathological data.
• Includes specific genetic variant information: the heterozygous c.788T>G p.(Leu263Arg) variant in exon 11 of the MYBPC1 gene.
• Documents a rare condition, with only 20 cases reported to date, adding to a limited body of knowledge.

Limitations

• The dataset is a single case report (n=1), limiting statistical power and generalizability.
• The primary data format is a PDF document (22.2 KB), requiring manual extraction for computational analysis.
• Row count and column-level documentation are unknown, complicating direct data reuse.

Provenance

Source

Daniele Velardo via figshare.

Collection Method

Clinical case study and genetic analysis.

Freshness

Last updated 2026-05-13.

Geography

Italy (single case).