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

Francesca Magri, Vincenzo Nigro, Corrado Angelini, Tiziana Mongini, Marina Mora, Isabella Moroni, Antonio Toscano, Maria Grazia D'angelo, Giuliano Tomelleri, Gabriele Siciliano, Giulia Ricci, Claudio Bruno, Stefania Corti, Olimpia Musumeci, Giorgio Tasca, Enzo Ricci, Mauro Monforte, Monica Sciacco, Chiara Fiorillo, Sandra GandossiniCarlo Minetti, Lucia Morandi, Marco Savarese, Giuseppina Di Fruscio, Claudio Semplicini, Elena Pegoraro, Alessandra Govoni, Roberta Brusa, Roberto Del Bo, Dario Ronchi, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)55-68
Number of pages14
JournalMuscle and Nerve
Issue number1
Publication statusPublished - Jan 2017


  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Creatine Kinase
  • Diagnosis, Differential
  • Female
  • Genetic Association Studies
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Muscle Proteins
  • Muscle, Skeletal
  • Muscular Dystrophies, Limb-Girdle
  • Registries
  • Respiration Disorders
  • Statistics, Nonparametric
  • Young Adult
  • Journal Article


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