TY - JOUR
T1 - The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
AU - Magri, Francesca
AU - Nigro, Vincenzo
AU - Angelini, Corrado
AU - Mongini, Tiziana
AU - Mora, Marina
AU - Moroni, Isabella
AU - Toscano, Antonio
AU - D'Angelo, Maria Grazia
AU - Tomelleri, Giuliano
AU - Siciliano, Gabriele
AU - Ricci, Giulia
AU - Bruno, Claudio
AU - Corti, Stefania
AU - Musumeci, Olimpia
AU - Tasca, Giorgio
AU - Ricci, Enzo
AU - Monforte, Mauro
AU - Sciacco, Monica
AU - Fiorillo, Chiara
AU - Gandossini, Sandra
AU - Minetti, Carlo
AU - Morandi, Lucia
AU - Savarese, Marco
AU - Fruscio, Giuseppina Di
AU - Semplicini, Claudio
AU - Pegoraro, Elena
AU - Govoni, Alessandra
AU - Brusa, Roberta
AU - Del Bo, Roberto
AU - Ronchi, Dario
AU - Moggio, Maurizio
AU - Bresolin, Nereo
AU - Comi, Giacomo Pietro
PY - 2017
Y1 - 2017
N2 - Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. 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: LGMD types 2A 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. Muscle Nerve 55: 55–68, 2017.
AB - Introduction: Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. 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: LGMD types 2A 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. Muscle Nerve 55: 55–68, 2017.
KW - Cellular and Molecular Neuroscience
KW - Neurology (clinical)
KW - Physiology
KW - Physiology (medical)
KW - differential diagnosis
KW - genotype–phenotype correlations
KW - limb girdle muscular dystrophy
KW - natural history
KW - next-generation sequencing
KW - Cellular and Molecular Neuroscience
KW - Neurology (clinical)
KW - Physiology
KW - Physiology (medical)
KW - differential diagnosis
KW - genotype–phenotype correlations
KW - limb girdle muscular dystrophy
KW - natural history
KW - next-generation sequencing
UR - http://hdl.handle.net/10807/92944
UR - http://onlinelibrary.wiley.com/journal/10.1002/(issn)1097-4598
U2 - 10.1002/mus.25192
DO - 10.1002/mus.25192
M3 - Article
SN - 0148-639X
VL - 55
SP - 55
EP - 68
JO - MUSCLE & NERVE
JF - MUSCLE & NERVE
ER -