Report a case of LPIN1 mutation-related congenital myopathy, and investigate the phenotypes associated with the autosomal recessive LPIN1 mutation. Methods: A patient with congenital myopathy was described. The clinical data, laboratory test results, muscle pathology, and gene screening were reported. Relevant literature was reviewed for further analysis. Results: The patient was a male child who had suffered poor muscle strength since young. Physical examination revealed hypotonia, poor limb muscle strength, and Gower’s sign. Serum creatine kinase (CK) level was increased. Electromyogram (EMG) showed myogenic damage. Muscle MRI showed the thigh and calf muscles on both sides were extensively damaged. Muscle pathology demonstrated that type I fibers were dominant at about 70%~80%. Homozygous mutation of the LPIN1 gene (c.357_ 358insCT) was identified by Sanger sequencing. We collected data of 66 cases of LPIN1 gene-related myopathy from MEDLINE. All patients presented with rhabdomyolysis (significant increase in creatine kinase, myalgia, and hemoglobinuria). Muscle MRI manifestation was largely normal. Myocardial involvement was the most common combined type of congenital myopathy. Conclusion: This is the first report in the country of congenital myopathy due to an autosomal recessive inheritance of a LPIN1 mutation. Muscle biopsy is useful for diagnosis, and gene analysis is crucial in confirming the inherited pattern.