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

[1]  Liangqian Jiang,et al.  Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy , 2022, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

[2]  P. Ghandil,et al.  Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview , 2021, Journal of Molecular Neuroscience.

[3]  Liwen Wu,et al.  POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy. , 2021, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

[4]  T. Toda,et al.  Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy , 2021, Frontiers in Genetics.

[5]  Yoshihiko Saito,et al.  [A Japanese family with POMT2-related limb girdle muscular dystrophy]. , 2021, Rinsho shinkeigaku = Clinical neurology.

[6]  M. Yıldırım,et al.  A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N , 2021, Turkish archives of pediatrics.

[7]  Yun Yuan,et al.  Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients , 2020, Clinical genetics.

[8]  E. Mercuri,et al.  European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) , 2019, Journal of Neurology.

[9]  D. MacArthur,et al.  Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness , 2018, Skeletal Muscle.

[10]  D. MacArthur,et al.  Limb girdle muscular dystrophy due to mutations in POMT2 , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[11]  E. Bertini,et al.  MRI in sarcoglycanopathies: a large international cohort study , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[12]  D. MacArthur,et al.  Diagnosis and etiology of congenital muscular dystrophy: We are halfway there , 2016, Annals of neurology.

[13]  B. Schoser,et al.  Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy , 2016, Journal of Neurology.

[14]  L. Morandi,et al.  A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation. , 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[15]  C. Bruno,et al.  Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene , 2013, Neurology.

[16]  F. Bianco,et al.  Muscle MRI in Becker muscular dystrophy , 2012, Neuromuscular Disorders.

[17]  K. Campbell,et al.  A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI , 2009, Brain & development (Tokyo. 1979).

[18]  G. Comi,et al.  Congenital muscular dystrophies with defective glycosylation of dystroglycan , 2009, Neurology.

[19]  F. Zara,et al.  POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. , 2007, Biochemical and biophysical research communications.

[20]  Susan C. Brown,et al.  Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. , 2007, Brain : a journal of neurology.

[21]  H. Urbach,et al.  Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs , 2005, Journal of Neurology.

[22]  R. U. Margolis,et al.  Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[23]  E. Hoffman,et al.  Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. , 2016, Journal of neuromuscular diseases.