Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

Abstract

GIM and NGIM PAM subjects showed similar results, suggesting that any unknown genes, which cause this disease have characteristics similar to those already described. Considering the complexity of clinical, morphological, and genetic data related to PAM, particularly myofibrillar myopathies, physicians should be careful when diagnosing patients with sporadic PAM.