title: Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
abstract: Some mutations of the lamin A/C gene may be responsible for a combination of distinct phenotypes, such as muscular dystrophy and peripheral neuropathy. We describe muscle and peripheral nerve lesions in a patient with a dominant lamin A/C missense mutation, E33D. Myopathic and neurogenic patterns coexisted on muscle biopsy specimens, whereas the peripheral nerve presented a mixture of axonopathy and Schwann cell hypertrophy. A few abnormal nuclei were found in muscle fibers and Schwann cells. Our morphological findings in this case attest to the predominant axonal damage, but suggest possible involvement of Schwann cells in neuropathies related to laminopathies.
authors.affiliation: Neuropathology Department, Bordeaux 2 University, Bordeaux cedex, France. anne.vital@chu-bordeaux.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Vital
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Marie
authors.initials: M
authors.lastname: Rouanet-Larrivière
authors.forename: Sandrine
authors.initials: S
authors.lastname: Eimer
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
authors.forename: Claude
authors.initials: C
authors.lastname: Vital
mesh_terms: D019943:Amino Acid Substitution; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000648:ultrastructure; D020125:Mutation, Missense; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D010543:Peroneal Nerve / Q000473:pathology / Q000648:ultrastructure
chemical_list: D034904:Lamin Type A; C440308:lamin C