LMNA c.1622G>A mutation and myopathic changes in a family with limb-girdle muscular dystrophy: A case report

The present study reports a case of limb-girdle muscular dystrophy (LGMD) associated with a pathogenic lamin A/C (LMNA) mutation (c.1622G>A). Notably, this case expands the phenotypic and genotypic spectrum of LMNA-related LGMD, and provides novel familial clinical and genetic evidence for this rare mutation. Genetic sequencing revealed a heterozygous mutation in both the proband and the mother of the proband, suggesting autosomal dominant inheritance. Electromyography (EMG) revealed reduced nerve conduction velocity and abnormal potentials in the proband and mother, indicating muscle weakness and atrophy. Magnetic resonance imaging (MRI) results showed symmetric muscle atrophy in the proximal muscles of the lower legs, with fatty tissue replacement. Both the proband and mother had elevated creatine kinase levels, whereas the father had normal levels. Transthoracic echocardiography ruled out severe heart disorders in the proband and mother. In conclusion, EMG and MRI findings indicated myopathic changes in the proband and the mother of the proband, confirming the significance of this mutation in LGMD. This familial case adds novel clinical, electrophysiological and imaging data to the existing literature on LMNA-associated LGMD. Further genetic and clinical evaluations are required to understand the long-term prognosis and potential treatment strategies for LMNA-related LGMD.