A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

ABSTRACT:

Background

Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.

Case presentation

The patient was a 37-year-old male who first experienced weakness in the distal muscles of his hand, which eventually spread to the lower limbs and proximal muscles. Serum creatine kinase levels were moderately elevated. Obvious neuropathic changes in the electromyographic exam and edema changes in lower distal limb magnetic resonance imaging were observed. Histopathological examination revealed the presence of abnormal protein aggregates and angular atrophy in some muscle fibers. Ultrastructural analysis showed i

SUBMITTER: Chen J 

PROVIDER: S-EPMC6697925 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature