Introduction Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. However, their molecular definition is fundamental for prognostic and therapeutic purposes. Methods We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. Results LGMD2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. CONCLUSION: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified.

The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis / F. Magri, V. Nigro, C. Angelini, T. Mongini, M. Mora, I. Moroni, A. Toscano, M.G. D'Angelo, G. Tomelleri, G. Siciliano, G. Ricci, C. Bruno, S. Corti, O. Musumeci, G. Tasca, E. Ricci, M. Monforte, M. Sciacco, C. Fiorillo, S. Gandossini, C. Minetti, L. Morandi, M. Savarese, G. Di Fruscio, C. Semplicini, E. Pegoraro, A. Govoni, R. Brusa, R. Del Bo, D. Ronchi, M. Moggio, N. Bresolin, G.P. Comi. - In: MUSCLE & NERVE. - ISSN 0148-639X. - 55:1(2017 Jan), pp. 55-68. [10.1002/mus.25192]

The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis

F. Magri
Primo
;
M.G. D'Angelo;S. Corti;A. Govoni;R. Brusa;R. Del Bo;D. Ronchi;N. Bresolin
Penultimo
;
G.P. Comi
Ultimo
2017-01

Abstract

Introduction Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. However, their molecular definition is fundamental for prognostic and therapeutic purposes. Methods We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective and prospective data and compared each LGMD subtype for differential diagnosis purposes. Results LGMD2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases. CONCLUSION: Detailed clinical characterization combined with muscle tissue analysis is fundamental to guide differential diagnosis and to address molecular tests. NGS is useful for diagnosing forms without specific biomarkers, although, at least in our study cohort, several LGMD disease mechanisms remain to be identified.
limb girdle muscular dystrophy; differential diagnosis; genotype-phenotype correlations; natural history; next-generation sequencing
Settore MED/26 - Neurologia
Settore MED/03 - Genetica Medica
17-mag-2016
Article (author)
File in questo prodotto:
File Dimensione Formato  
Magri_et_al-2016-Muscle_&_Nerve MY air.pdf

accesso aperto

Tipologia: Pre-print (manoscritto inviato all'editore)
Dimensione 951.7 kB
Formato Adobe PDF
951.7 kB Adobe PDF Visualizza/Apri
Magri_et_al-2016-Muscle_&_Nerve.pdf

accesso aperto

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 1.41 MB
Formato Adobe PDF
1.41 MB Adobe PDF Visualizza/Apri
mus.25192.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 416.69 kB
Formato Adobe PDF
416.69 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/398157
Citazioni
  • ???jsp.display-item.citation.pmc??? 27
  • Scopus 57
  • ???jsp.display-item.citation.isi??? 52
social impact