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

Revised Genetic Classification of Limb Girdle Muscular Dystrophies

(2014) F. Magri et al.   CURRENT MOLECULAR MEDICINE

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

(2014) Juliette Nectoux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

(2014) Natássia M. Vieira et al.   HUMAN MOLECULAR GENETICS

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

(2014) P. Narayanaswami et al.   NEUROLOGY

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

(2014) Marco Savarese et al.   Acta Neuropathologica Communications

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

(2013) Nanna Witting et al.   JOURNAL OF NEUROLOGY

Limb-girdle muscular dystrophy with  -dystroglycan deficiency and mutations in the ISPD gene

(2013) G. Tasca et al.   NEUROLOGY

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

(2009) M. Fanin et al.   NEUROLOGY

Limb–girdle muscular dystrophies

(2008) Michela Guglieri et al.   CURRENT OPINION IN NEUROLOGY