MLIP-Related Myopathy: Two Unreported Pathogenic Variants in Mexican Patients

Two case reports describe the first Mexican patients diagnosed with MLIP-related myopathy, a rare muscle disorder. The data includes clinical findings, genetic variant descriptions, and comparisons to approximately 15 previously reported cases worldwide. The dataset was published by figshare admin karger under a CC-BY-4.0 license on June 1, 2026.

Use Cases

• Compare clinical phenotypes of MLIP-related myopathy based on the described joint, neurological, and behavioral findings.
• Analyze the prevalence of specific genetic variants based on the reported c.645+2T>C and c.1905_1912del mutations.
• Study genotype-phenotype correlations in rare muscle disorders based on the absence of myalgia, cramps, or rhabdomyolysis in these cases.

Strengths

• Includes detailed clinical descriptions of two novel patient cases.
• Reports two previously unreported pathogenic variants (c.645+2T>C and c.1905_1912del) in the MLIP gene.
• Provides a comparison to the approximately 15 known cases of this rare disorder.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small (908.6 KB), indicating limited scope.

Provenance

Source

figshare

Collection Method

Clinical case report compilation.

Freshness

Last updated 2026-06-01 07:15:56; freshness should be verified.

Geography

Mexico (cases described are the first reported Mexican patients).