Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

S Brioschi; F Gualandi; C Scotton; A Armaroli; M Bovolenta; Falzarano; P Sabatelli; R Selvatici; Adele D'Amico; Marika Pane; Giuseppe Ricci; Giacinto Siciliano; S Tedeschi; A Pini; L Vercelli; D De Grandis; Eugenio Maria Mercuri; Enrico Silvio Bertini; L Merlini; T Mongini; A. Ferlini

doi:10.1186/1471-2350-13-73

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

S Brioschi, F Gualandi, C Scotton, A Armaroli, M Bovolenta, Falzarano, P Sabatelli, R Selvatici, Adele D'Amico, Marika Pane, Giuseppe Ricci, Giacinto Siciliano, S Tedeschi, A Pini, L Vercelli, D De Grandis, Eugenio Maria Mercuri, Enrico Silvio Bertini, L Merlini, T MonginiA. Ferlini^*

^*Autore corrispondente per questo lavoro

IRCCS Ospedale pediatrico Bambino Gesù - Roma

Risultato della ricerca: Contributo in rivista › Articolo in rivista

39 Citazioni (Scopus)

Abstract

Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees of muscle weakness and/or cardiac involvement. Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial.

Lingua originale	English
pagine (da-a)	73-73
Numero di pagine	1
Rivista	BMC Medical Genetics
Volume	13
Numero di pubblicazione	Agosto
DOI	https://doi.org/10.1186/1471-2350-13-73
Stato di pubblicazione	Pubblicato - 2012

All Science Journal Classification (ASJC) codes

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???subjectarea.asjc.2700.2716???

Keywords

Adolescent
Adult
Alleles
Blotting
Child
Comparative Genomic Hybridization
Dosage Compensation
Duchenne
Dystrophin
Female
Genetic
Heterozygote
Humans
Middle Aged
Muscle Weakness
Muscular Dystrophy
Mutation
Osteopontin
Phenotype
Polymerase Chain Reaction
Preschool
Transcription
Western
X Chromosome Inactivation
Young Adult

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10.1186/1471-2350-13-73

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Brioschi, S., Gualandi, F., Scotton, C., Armaroli, A., Bovolenta, M., Falzarano, Sabatelli, P., Selvatici, R., D'Amico, A., Pane, M., Ricci, G., Siciliano, G., Tedeschi, S., Pini, A., Vercelli, L., De Grandis, D., Mercuri, E. M., Bertini, E. S., Merlini, L., ... Ferlini, A. (2012). Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Medical Genetics, 13(Agosto), 73-73. https://doi.org/10.1186/1471-2350-13-73

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abstract = "Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees of muscle weakness and/or cardiac involvement. Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial.",

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Brioschi, S, Gualandi, F, Scotton, C, Armaroli, A, Bovolenta, M, Falzarano, Sabatelli, P, Selvatici, R, D'Amico, A, Pane, M, Ricci, G, Siciliano, G, Tedeschi, S, Pini, A, Vercelli, L, De Grandis, D, Mercuri, EM, Bertini, ES, Merlini, L, Mongini, T & Ferlini, A 2012, 'Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype', BMC Medical Genetics, vol. 13, n. Agosto, pagg. 73-73. https://doi.org/10.1186/1471-2350-13-73

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T1 - Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

AU - Brioschi, S

AU - Gualandi, F

AU - Scotton, C

AU - Armaroli, A

AU - Bovolenta, M

AU - Falzarano,

AU - Sabatelli, P

AU - Selvatici, R

AU - D'Amico, Adele

AU - Pane, Marika

AU - Ricci, Giuseppe

AU - Siciliano, Giacinto

AU - Tedeschi, S

AU - Pini, A

AU - Vercelli, L

AU - De Grandis, D

AU - Mercuri, Eugenio Maria

AU - Bertini, Enrico Silvio

AU - Merlini, L

AU - Mongini, T

AU - Ferlini, A.

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AB - Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees of muscle weakness and/or cardiac involvement. Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial.

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JO - BMC Medical Genetics

JF - BMC Medical Genetics

IS - Agosto

ER -

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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