title: Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
abstract: The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present.
authors.affiliation: INSERM U289, Hôpital Pitié-Salpêtrière, 47 Bd de l'hôpital, 75651, Paris Cedex 13, France. chverny@chu-angers.fr
authors.forename: C
authors.initials: C
authors.lastname: Verny
authors.forename: N
authors.initials: N
authors.lastname: Ravisé
authors.forename: A-L
authors.initials: AL
authors.lastname: Leutenegger
authors.forename: F
authors.initials: F
authors.lastname: Pouplard
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: S
authors.initials: S
authors.lastname: Tardieu
authors.forename: F
authors.initials: F
authors.lastname: Dubas
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: E
authors.initials: E
authors.lastname: Genin
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor
chemical_list: C408986:MTMR2 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor