Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Marika Pane; S. Messina; G. Vasco; A. R. Foley; L. Morandi; E. Pegoraro; T. Mongini; A. D'Amico; Flaviana Bianco; M. E. Lombardo; R. Scalise; C. Bruno; A. Berardinelli; A. Pini; I. Moroni; M. Mora; A. Toscano; M. Moggio; G. Comi; F. M. Santorelli; E. Bertini; Enrico Silvio Bertini; F. Muntoni; Eugenio Maria Mercuri

doi:10.1016/j.nmd.2012.05.006

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Marika Pane, S. Messina, G. Vasco, A. R. Foley, L. Morandi, E. Pegoraro, T. Mongini, A. D'Amico, Flaviana Bianco, M. E. Lombardo, R. Scalise, C. Bruno, A. Berardinelli, A. Pini, I. Moroni, M. Mora, A. Toscano, M. Moggio, G. Comi, F. M. SantorelliE. Bertini, Enrico Silvio Bertini, F. Muntoni, Eugenio Maria Mercuri

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1. month and 20. years. The age at last follow up of the surviving 102 ranged between 1. year and 68. years (median: 9.3. years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in . FKRP, . POMT1, . POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function. © 2012.

Lingua originale	Inglese
pagine (da-a)	685-689
Numero di pagine	5
Rivista	Neuromuscular Disorders
Volume	22
DOI	https://doi.org/10.1016/j.nmd.2012.05.006
Stato di pubblicazione	Pubblicato - 2012

Keywords

Alpha dystroglycan
Respiratory
Heart
Congenital muscular dystrophy

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Pane, M., Messina, S., Vasco, G., Foley, A. R., Morandi, L., Pegoraro, E., Mongini, T., D'Amico, A., Bianco, F., Lombardo, M. E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., ... Mercuri, E. M. (2012). Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 22, 685-689. https://doi.org/10.1016/j.nmd.2012.05.006

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title = "Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency",

abstract = "The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1. month and 20. years. The age at last follow up of the surviving 102 ranged between 1. year and 68. years (median: 9.3. years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in . FKRP, . POMT1, . POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function. {\textcopyright} 2012.",

keywords = "Alpha dystroglycan, Respiratory, Heart, Congenital muscular dystrophy, Alpha dystroglycan, Respiratory, Heart, Congenital muscular dystrophy",

author = "Marika Pane and S. Messina and G. Vasco and Foley, {A. R.} and L. Morandi and E. Pegoraro and T. Mongini and A. D'Amico and Flaviana Bianco and Lombardo, {M. E.} and R. Scalise and C. Bruno and A. Berardinelli and A. Pini and I. Moroni and M. Mora and A. Toscano and M. Moggio and G. Comi and Santorelli, {F. M.} and E. Bertini and Bertini, {Enrico Silvio} and F. Muntoni and Mercuri, {Eugenio Maria}",

year = "2012",

doi = "10.1016/j.nmd.2012.05.006",

language = "English",

volume = "22",

pages = "685--689",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

}

Pane, M, Messina, S, Vasco, G, Foley, AR, Morandi, L, Pegoraro, E, Mongini, T, D'Amico, A, Bianco, F, Lombardo, ME, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, FM, Bertini, E, Bertini, ES, Muntoni, F & Mercuri, EM 2012, 'Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency', Neuromuscular Disorders, vol. 22, pagg. 685-689. https://doi.org/10.1016/j.nmd.2012.05.006

TY - JOUR

T1 - Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

AU - Pane, Marika

AU - Messina, S.

AU - Vasco, G.

AU - Foley, A. R.

AU - Morandi, L.

AU - Pegoraro, E.

AU - Mongini, T.

AU - D'Amico, A.

AU - Bianco, Flaviana

AU - Lombardo, M. E.

AU - Scalise, R.

AU - Bruno, C.

AU - Berardinelli, A.

AU - Pini, A.

AU - Moroni, I.

AU - Mora, M.

AU - Toscano, A.

AU - Moggio, M.

AU - Comi, G.

AU - Santorelli, F. M.

AU - Bertini, E.

AU - Bertini, Enrico Silvio

AU - Muntoni, F.

AU - Mercuri, Eugenio Maria

PY - 2012

Y1 - 2012

N2 - The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1. month and 20. years. The age at last follow up of the surviving 102 ranged between 1. year and 68. years (median: 9.3. years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in . FKRP, . POMT1, . POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function. © 2012.

AB - The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1. month and 20. years. The age at last follow up of the surviving 102 ranged between 1. year and 68. years (median: 9.3. years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in . FKRP, . POMT1, . POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function. © 2012.

KW - Alpha dystroglycan

KW - Respiratory

KW - Heart

KW - Congenital muscular dystrophy

KW - Alpha dystroglycan

KW - Respiratory

KW - Heart

KW - Congenital muscular dystrophy

UR - http://hdl.handle.net/10807/260279

U2 - 10.1016/j.nmd.2012.05.006

DO - 10.1016/j.nmd.2012.05.006

M3 - Article

SN - 0960-8966

VL - 22

SP - 685

EP - 689

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

Abstract

Keywords

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