Congenital myopathies: Clinical phenotypes and new diagnostic tools

Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Claudio Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M. Santorelli; Angela Berardinelli; Enrico Silvio Bertini; Giacomo Comi; Adele D'Amico; Maria Alice Donati; Maria Teresa Dotti; Fabiana Fattori; Francesco Fattori; Marina Grandis; Lorenzo Maggi; Francesca Magri; Maria A. Maioli; Alessandro Malandrini; Francesco Mari; Roberto Massa; Raffael Massa; Eugenio Maria Mercuri; Luciano Merlini; Maurizio Moggio; Marina Mora; Lucia O. Morandi; Olimpia Musumeci; Vincenzo Nigro; Marika Pane; Elena Pegoraro; Elena M. Pennisi; Lorenzo Peverelli; Giulia Ricci; Giuseppe Ricci; Carmelo Rodolico; Lucia Ruggiero; Michele Sacchini; Lucio Santoro; Marco Savarese; Mariarosaria Savarese; Gabriele Siciliano; Giovanni Siciliano; Alessandro Simonati; Paola Tonin; Paolo Tonin; Antonio Toscano

doi:10.1186/s13052-017-0419-z

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Claudio Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, Angela Berardinelli, Enrico Silvio Bertini, Giacomo Comi, Adele D'Amico, Maria Alice Donati, Maria Teresa Dotti, Fabiana Fattori, Francesco Fattori, Marina GrandisLorenzo Maggi, Francesca Magri, Maria A. Maioli, Alessandro Malandrini, Francesco Mari, Roberto Massa, Raffael Massa, Eugenio Maria Mercuri, Luciano Merlini, Maurizio Moggio, Marina Mora, Lucia O. Morandi, Olimpia Musumeci, Vincenzo Nigro, Marika Pane, Elena Pegoraro, Elena M. Pennisi, Lorenzo Peverelli, Giulia Ricci, Giuseppe Ricci, Carmelo Rodolico, Lucia Ruggiero, Michele Sacchini, Lucio Santoro, Marco Savarese, Mariarosaria Savarese, Gabriele Siciliano, Giovanni Siciliano, Alessandro Simonati, Paola Tonin, Paolo Tonin, Antonio Toscano

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

Lingua originale	English
pagine (da-a)	1-16
Numero di pagine	16
Rivista	THE ITALIAN JOURNAL OF PEDIATRICS
Volume	43
DOI	https://doi.org/10.1186/s13052-017-0419-z
Stato di pubblicazione	Pubblicato - 2017

Keywords

Congenital myopathy
Next generation sequencing
Muscle MRI
Muscle biopsy

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10.1186/s13052-017-0419-z

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Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Fattori, F., ... Toscano, A. (2017). Congenital myopathies: Clinical phenotypes and new diagnostic tools. THE ITALIAN JOURNAL OF PEDIATRICS, 43, 1-16. https://doi.org/10.1186/s13052-017-0419-z

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abstract = "Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.",

keywords = "Congenital myopathy, Next generation sequencing, Muscle MRI, Muscle biopsy, Congenital myopathy, Next generation sequencing, Muscle MRI, Muscle biopsy",

author = "Denise Cassandrini and Rosanna Trovato and Anna Rubegni and Sara Lenzi and Chiara Fiorillo and Claudio Fiorillo and Jacopo Baldacci and Carlo Minetti and Guja Astrea and Claudio Bruno and Santorelli, {Filippo M.} and Angela Berardinelli and Bertini, {Enrico Silvio} and Giacomo Comi and Adele D'Amico and Donati, {Maria Alice} and Dotti, {Maria Teresa} and Fabiana Fattori and Francesco Fattori and Marina Grandis and Lorenzo Maggi and Francesca Magri and Maioli, {Maria A.} and Alessandro Malandrini and Francesco Mari and Roberto Massa and Raffael Massa and Mercuri, {Eugenio Maria} and Luciano Merlini and Maurizio Moggio and Marina Mora and Morandi, {Lucia O.} and Olimpia Musumeci and Vincenzo Nigro and Marika Pane and Elena Pegoraro and Pennisi, {Elena M.} and Lorenzo Peverelli and Giulia Ricci and Giuseppe Ricci and Carmelo Rodolico and Lucia Ruggiero and Michele Sacchini and Lucio Santoro and Marco Savarese and Mariarosaria Savarese and Gabriele Siciliano and Giovanni Siciliano and Alessandro Simonati and Paola Tonin and Paolo Tonin and Antonio Toscano",

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doi = "10.1186/s13052-017-0419-z",

language = "English",

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Cassandrini, D, Trovato, R, Rubegni, A, Lenzi, S, Fiorillo, C, Fiorillo, C, Baldacci, J, Minetti, C, Astrea, G, Bruno, C, Santorelli, FM, Berardinelli, A, Bertini, ES, Comi, G, D'Amico, A, Donati, MA, Dotti, MT, Fattori, F, Fattori, F, Grandis, M, Maggi, L, Magri, F, Maioli, MA, Malandrini, A, Mari, F, Massa, R, Massa, R, Mercuri, EM, Merlini, L, Moggio, M, Mora, M, Morandi, LO, Musumeci, O, Nigro, V, Pane, M, Pegoraro, E, Pennisi, EM, Peverelli, L, Ricci, G, Ricci, G, Rodolico, C, Ruggiero, L, Sacchini, M, Santoro, L, Savarese, M, Savarese, M, Siciliano, G, Siciliano, G, Simonati, A, Tonin, P, Tonin, P & Toscano, A 2017, 'Congenital myopathies: Clinical phenotypes and new diagnostic tools', THE ITALIAN JOURNAL OF PEDIATRICS, vol. 43, pagg. 1-16. https://doi.org/10.1186/s13052-017-0419-z

TY - JOUR

T1 - Congenital myopathies: Clinical phenotypes and new diagnostic tools

AU - Cassandrini, Denise

AU - Trovato, Rosanna

AU - Rubegni, Anna

AU - Lenzi, Sara

AU - Fiorillo, Chiara

AU - Fiorillo, Claudio

AU - Baldacci, Jacopo

AU - Minetti, Carlo

AU - Astrea, Guja

AU - Bruno, Claudio

AU - Santorelli, Filippo M.

AU - Berardinelli, Angela

AU - Bertini, Enrico Silvio

AU - Comi, Giacomo

AU - D'Amico, Adele

AU - Donati, Maria Alice

AU - Dotti, Maria Teresa

AU - Fattori, Fabiana

AU - Fattori, Francesco

AU - Grandis, Marina

AU - Maggi, Lorenzo

AU - Magri, Francesca

AU - Maioli, Maria A.

AU - Malandrini, Alessandro

AU - Mari, Francesco

AU - Massa, Roberto

AU - Massa, Raffael

AU - Mercuri, Eugenio Maria

AU - Merlini, Luciano

AU - Moggio, Maurizio

AU - Mora, Marina

AU - Morandi, Lucia O.

AU - Musumeci, Olimpia

AU - Nigro, Vincenzo

AU - Pane, Marika

AU - Pegoraro, Elena

AU - Pennisi, Elena M.

AU - Peverelli, Lorenzo

AU - Ricci, Giulia

AU - Ricci, Giuseppe

AU - Rodolico, Carmelo

AU - Ruggiero, Lucia

AU - Sacchini, Michele

AU - Santoro, Lucio

AU - Savarese, Marco

AU - Savarese, Mariarosaria

AU - Siciliano, Gabriele

AU - Siciliano, Giovanni

AU - Simonati, Alessandro

AU - Tonin, Paola

AU - Tonin, Paolo

AU - Toscano, Antonio

PY - 2017

Y1 - 2017

N2 - Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

AB - Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

KW - Congenital myopathy

KW - Next generation sequencing

KW - Muscle MRI

KW - Muscle biopsy

KW - Congenital myopathy

KW - Next generation sequencing

KW - Muscle MRI

KW - Muscle biopsy

UR - http://hdl.handle.net/10807/260295

U2 - 10.1186/s13052-017-0419-z

DO - 10.1186/s13052-017-0419-z

M3 - Article

SN - 1720-8424

VL - 43

SP - 1

EP - 16

JO - THE ITALIAN JOURNAL OF PEDIATRICS

JF - THE ITALIAN JOURNAL OF PEDIATRICS

ER -

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Abstract

Keywords

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