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BMC Neurology Aug 2019Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in...
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 inordinate myofibrillar structures and dissolved myofilaments. DNA sequencing analysis detected a heterozygous missense mutation (c.7123G > A, p.V2375I) in the immunoglobulin (Ig)-like domain 21 of FLNC.
CONCLUSIONS
FLNC mutation c.7123G > A, p.V2375I in the immunoglobulin (Ig)-like domain 21 can be associated with distal myopathy with typical MFM features and lower motor neuron syndrome. Although electromyographic examination of our patient showed obvious neuropathic changes, MFM could not be excluded. Therefore, genetic testing is necessary to make an accurate diagnosis.
Topics: Adult; Heterozygote; Humans; Male; Motor Neuron Disease; Muscular Dystrophies; Mutation; Mutation, Missense; Phenotype; Syndrome
PubMed: 31421687
DOI: 10.1186/s12883-019-1410-7 -
Stem Cell Research Apr 2024Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by...
Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them DES (encoding desmin) is the most frequently affected. Peripheral blood mononuclear cells from 5 different MFM patients with different DES mutations were reprogrammed into induced pluripotent stem cells (IPSC) using non-integrative vectors. For each patient, one IPSC clone was selected and demonstrated pluripotency hallmarks without genomic abnormalities. SNP profiles were identical to the cells of origin and all the clones have the capacity to differentiate into all three germ layers.
Topics: Humans; Induced Pluripotent Stem Cells; Leukocytes, Mononuclear; Myopathies, Structural, Congenital; Mutation
PubMed: 38354647
DOI: 10.1016/j.scr.2024.103338