Associated Papers
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
Zhao X et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
Gan S et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2021
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Tomita Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2021
Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.
Chen XY et al.
Frontiers in Genetics, 2021
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
Murakami T et al.
Brain & Development, 2009
[Limb-girdle muscular dystrophy; update].
Sunada Y
Rinsho Shinkeigaku = Clinical Neurology, 2004
[A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness].
Takahashi T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000
[Staircase phenomenon in "mitochodrial myopathy' and limb-girdle type muscular dystrophy].
Sunohara N et al.
Rinsho Shinkeigaku = Clinical Neurology, 1982
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