title: Intrafamilial heterogeneous clinical presentation of the mitochondrial 3243 MELAS mutation; molecular investigations among four generations.
abstract: We have identified the A3243G heteroplasmic point mutation in mitochondrial DNA from a female patient with headache as the main clinical feature. The mitochondrial origin of her disease was only suspected because of her brother with MELAS syndrome. Morphological and biochemical studies failed to reveal mitochondrial respiratory chain dysfunction in her muscle which contained 65% of mutated mitochondrial DNA molecules. Molecular studies performed among four generations (in the blood of seven subjects) showed the variable transmission of mutated molecules and pointed out the difficulty in giving genetic counsel.
authors.affiliation: INSERM U75, Faculté de médecine Necker Enfants-Malades, Université Paris V, F-75730 Paris Cedex 15Department of Neurology, CHU Côte de Nacre, F-14033 Caen CedexDivision Riesler, Hôpital de la Salpêtrière, 47 Bvd de I'hôpital, F-75013 ParisLaboratory of Anatomo-pathology, Hôpital Robert Debré, 48 Bvd Serrurier, F-75019 ParisDepartment of Anatomo-pathology and Cytology, Faculté de Médecine Toulouse-Rangueil, F-31034 Toulouse CedexLaboratory of Neuropathology, CHU Côte de Nacre, F-14033 Caen Cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Degoul
authors.forename: M
authors.initials: M
authors.lastname: Diry
authors.forename: F
authors.initials: F
authors.lastname: Viader
authors.forename: E
authors.initials: E
authors.lastname: Boitier
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: M B
authors.initials: MB
authors.lastname: Delisle
authors.forename: B
authors.initials: B
authors.lastname: Lechevalier
authors.forename: F
authors.initials: F
authors.lastname: Chapon