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Congenital Myopathy with tremor, currently classified as Congenital Myopathy-16, represents a very rare disease phenotype, associated with domain-specific variants in the MYBPC1 gene. This gene encodes Myosin binding protein-C slow (sMyBP-C), a cytoskeletal protein expressed in skeletal muscle tissues with at least 10 different isoforms. This protein plays a crucial role in stabilizing the thick filament and regulating actin-myosin binding during cross-bridge formation. Previous research has suggested that observed sarcomeric deficits may underlie the molecular mechanisms causing the disease. We have created a mouse model for this disease, harboring a patient-specific variant (c.739T>C, p.(Y247H)). Here, we present a comprehensive description of the observed phenotype using a plethora of quantitative and qualitative methods, including behavioral tests, microscopy, protein quantification, biochemical assays including spectrophotometric measurements of OXPHOS enzyme activities, transcriptome analysis by RNA-seq, and proteomics. Our findings demonstrate strength deficits, myogenic tremor, and homozygous lethality in the model, as well as the localization of the mutant protein, similar to a previous model, carrying another patient-specific variant in the MYBPC1 gene. While we observed expected sarcomere disorder and misalignment, they were not as pronounced. Transcriptome data and biochemical assays unveil not only morphological abnormalities in mitochondria but also functional deficits in the oxidative phosphorylation system. This research reinforces the myogenic tremor phenotype observed in patients and the initial animal model, emphasizing the correlation between phenotypic severity and alterations in the binding potential of the mutant protein, as suggested in our previous work. Additionally, we provide evidence indicating mitochondrial dysregulation as a component of this disease. We thank ERAF Nr. 1.1.1.1/18/A/097. [ABSTRACT FROM AUTHOR]