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

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Abstract

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.

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Journal

Journal ID (iso-abbrev): Muscle Nerve

Title: Muscle & nerve

Publisher: Wiley

ISSN (Electronic): 1097-4598

ISSN (Print): 0148-639X

Publication date (Electronic): January 2017

Volume: 55

Issue: 1

Affiliations

[1 ] Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

[2 ] Department of General Pathology, University of Naples, Naples, Italy.

[3 ] Telethon Institute of Genetics and Medicine, Naples, Italy.

[4 ] Foundation S. Camillo Hospital, IRCCS, Lido, Venice, Italy.

[5 ] Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino, Italy.

[6 ] Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.

[7 ] Child Neurology Unit, IRCCS Foundation Istituto Neurologico C. Besta, Milan, Italy.

[8 ] Department of Clinically and Experimental Medicine, University of Messina, Italy.

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

[10 ] Department of Neurological Sciences, Verona, Italy.

[11 ] Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

[12 ] Center of Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova.

[13 ] Don Carlo Gnocchi ONLUS Foundation, Rome, Italy.

[14 ] Department of Neurology, Policlinico Universitario A. Gemelli, University Cattolica del Sacro Cuore of Rome, Rome, Italy.

[15 ] Dino Ferrari Centre, Neuromuscular and Rare Diseases Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

[16 ] IRCCS Fondazione Stella Maris, Calambrone, Italy.

[17 ] Department of Neurosciences, University of Padua, Padua, Italy.

Article

DOI: 10.1002/mus.25192

PubMed ID: 27184587

SO-VID: 9283ff6f-97b2-476e-9c55-8bf2aa78729e

History

Keywords: genotype-phenotype correlations,differential diagnosis,next-generation sequencing,natural history,limb girdle muscular dystrophy

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Keywords: genotype-phenotype correlations, differential diagnosis, next-generation sequencing, natural history, limb girdle muscular dystrophy

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

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