Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

Author:

Panicucci Chiara,Casalini Sara,Damasio Beatrice M.,Brolatti Noemi,Pedemonte Marina,Biolcati Rinaldi Alessandra,Morando Simone,Doglio Luca,Raffaghello Lizzia,Fiorillo Chiara,Zara FedericoORCID,Tasca GiorgioORCID,Bruno ClaudioORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference24 articles.

1. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity;Manya;Proc Natl Acad Sci U S A,2004

2. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan;Godfrey;Brain,2007

3. Limb girdle muscular dystrophy due to mutations in POMT2;Østergaard;J NeurolNeurosurg Psychiatry,2018

4. A Japanese family with POMT2-related limb girdle muscular dystrophy;Tomita;RinshoShinkeigaku,2021

5. Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy;Chen;Front Genet,2021

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