title: Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.
abstract: BACKGROUND
  Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria.
  
  
  METHODS
  We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene.
  
  
  RESULTS
  We identified heterozygous mutations (c.80C> T; pT27I) in the LMNA gene in 3 family members who had the LGMD phenotype with onset in their early thirties and cardiac conduction defects or dilated cardiomyopathy. Interestingly, muscle biopsies showed changes consistent with fiber type disproportion (FTD).
  
  
  CONCLUSIONS
  Fiber type disproportion has been reported only anecdotally in muscle biopsies of patients with LMNA mutations. Our report further supports this association and suggests inclusion of molecular testing for LMNA in the differential diagnosis of myopathies with FTD due to the risk for life threatening events.
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131, Naples, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ruggiero
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Fiore
authors.initials: F
authors.lastname: Manganelli
authors.forename: Rosa
authors.initials: R
authors.lastname: Iodice
authors.forename: Raffaele
authors.initials: R
authors.lastname: Dubbioso
authors.forename: Floriana
authors.initials: F
authors.lastname: Vitale
authors.forename: Eugenia
authors.initials: E
authors.lastname: Storti
authors.forename: Ernesto
authors.initials: E
authors.lastname: Soscia
authors.forename: Filippo
authors.initials: F
authors.lastname: Santorelli
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: FTD; LGMD; LMNA; cardiomyopathy; laminopathy