title: Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.
abstract: Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic transition T12313C which disrupts a conserved site in the T Psi C stem of the tRNA(Leu(CUN)) gene and fulfills the accepted criteria of pathogenicity. A partial deletion of the nuclear DNA D4Z4 region with residual repeat sizes of 25 kb was also found in the patient and in her mother. This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) "double trouble".
authors.affiliation: Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Paola
authors.initials: P
authors.lastname: Tonin
authors.forename: Mauro
authors.initials: M
authors.lastname: Scarpelli
authors.forename: Chiara
authors.initials: C
authors.lastname: Savio
authors.forename: Francesca
authors.initials: F
authors.lastname: Greco
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Gaetano
authors.initials: G
authors.lastname: Vattemi
authors.forename: Vittorio
authors.initials: V
authors.lastname: Govoni
authors.forename: Nicolò
authors.initials: N
authors.lastname: Rizzuto
authors.forename: Rossella
authors.initials: R
authors.lastname: Tupler
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
mesh_terms: D001483:Base Sequence; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000473:pathology; D009690:Nucleic Acid Conformation; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012356:RNA, Transfer, Leu / Q000737:chemistry / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu