title: Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
abstract: The coexistence of neurogenic and myogenic features in scapuloperoneal syndrome is rarely ascribed to a single gene. Defects in the nuclear envelope protein lamin A/C, encoded by the LMNA gene, have been shown to be associated with a variety of disorders affecting mainly the muscular and adipose tissues and, more recently, with autosomal recessive Charcot-Marie-Tooth type 2 neuropathy. This report is about a patient presenting features of myopathy and neuropathy due to a dominant LMNA mutation, suggesting that the peripheral nerve might be affected in primary LMNA myopathy. Our observations further support the marked intrafamilial and interfamilial phenotypic heterogeneity associated with lamin A/C defects.
authors.affiliation: Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Benedetti
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: S
authors.initials: S
authors.lastname: Iannaccone
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: M
authors.initials: M
authors.lastname: Trisciani
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
authors.forename: B
authors.initials: B
authors.lastname: Sferrazza
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: A
authors.initials: A
authors.lastname: Quattrini
authors.forename: S C
authors.initials: SC
authors.lastname: Previtali
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D013497:Sural Nerve / Q000473:pathology
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins