The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

被引：72

作者：

Magri, Francesca ^{[1
]}

Nigro, Vincenzo ^{[2
,3
]}

Angelini, Corrado ^{[4
]}

Mongini, Tiziana ^{[5
]}

Mora, Marina ^{[6
]}

Moroni, Isabella ^{[7
]}

Toscano, Antonio ^{[8
]}

D'angelo, Maria Grazia ^{[9
]}

Tomelleri, Giuliano ^{[10
]}

Siciliano, Gabriele ^{[11
]}

Ricci, Giulia ^{[11
]}

Bruno, Claudio ^{[12
]}

Corti, Stefania ^{[1
]}

Musumeci, Olimpia ^{[8
]}

Tasca, Giorgio ^{[13
]}

Ricci, Enzo ^{[14
]}

Monforte, Mauro ^{[14
]}

Sciacco, Monica ^{[16
]}

Fiorillo, Chiara ^{[17
]}

Gandossini, Sandra ^{[9
]}

Minetti, Carlo ^{[12
]}

Morandi, Lucia ^{[6
]}

Savarese, Marco ^{[2
,3
]}

Di Fruscio, Giuseppina ^{[2
,3
]}

Semplicini, Claudio ^{[15
]}

Pegoraro, Elena ^{[15
]}

Govoni, Alessandra ^{[1
]}

Brusa, Roberta ^{[1
]}

Del Bo, Roberto ^{[1
]}

Ronchi, Dario ^{[1
]}

Moggio, Maurizio ^{[16
]}

Bresolin, Nereo ^{[1
]}

Comi, Giacomo Pietro ^{[1
]}

机构：

[1] Univ Milan, Dept Pathophysiol & Transplantat, Osped Maggiore Policlin, Dino Ferrari Ctr,Neurol Unit,IRCCS Fdn Ca Granda, Via Francesco Sforza 35, I-20122 Milan, Italy

[2] Univ Naples Federico II, Dept Gen Pathol, Naples, Italy

[3] Telethon Inst Genet & Med, Naples, Italy

[4] IRCCS, Fdn S Camillo Hosp, Venice, Italy

[5] Univ Turin, Dept Neurosci Rita Levi Montalcini, Turin, Italy

[6] Fdn IRCCS Ist Neurol C Besta, Neuromuscular Dis & Neuroimmunol Unit, Milan, Italy

[7] IRCCS Fdn Ist Neurol C Besta, Child Neurol Unit, Milan, Italy

[8] Univ Messina, Dept Clinically & Expt Med, Messina, Italy

[9] IRCCS E Medea Bosisio Parini, Neuromuscular Unit, Bosisio Parini, Italy

[10] Dept Neurol Sci, Verona, Italy

[11] Univ Pisa, Dept Clin & Expt Med, Pisa, Italy

[12] Ist Giannina Gaslini, Ctr Myol & Neurodegenerat Dis, Genoa, Italy

[13] Don Carlo Gnocchi ONLUS Fdn, Rome, Italy

[14] Univ Cattolica Sacro Cuore Rome, Policlin Univ A Gemelli, Dept Neurol, Rome, Italy

[15] Univ Padua, Dept Neurosci, Padua, Italy

[16] IRCCS Fdn Ca Granda, Osped Maggiore Policlin, Dino Ferrari Ctr, Neuromuscular & Rare Dis Unit, Milan, Italy

[17] IRCCS Fdn Stella Maris, Calambrone, Italy

来源：

MUSCLE & NERVE | 2017年 / 55卷 / 01期

关键词：

differential diagnosis; genotype-phenotype correlations; limb girdle muscular dystrophy; natural history; next-generation sequencing; PROTEIN EXPRESSION; ALPHA-DYSTROGLYCAN; GENE-MUTATIONS; DEFICIENCY; MUSCLE; POPULATION; PREVALENCE; DISEASE; PHENOTYPES; TYPE-21;

D O I：

10.1002/mus.25192

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 Nerve55: 55-68, 2017

引用

页码：55 / 68

页数：14

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