A Japanese family with POMT2-related limb girdle muscular dystrophy
Author:
Affiliation:
1. Department of Neurology, National Hospital Organization Nagasaki Kawatana Medical Center
2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry
Publisher
Societas Neurologica Japonica
Subject
Neurology (clinical)
Link
https://www.jstage.jst.go.jp/article/clinicalneurol/61/6/61_cn-001547/_pdf
Reference12 articles.
1. 1) Ohtsuka Y, Kanagawa M, Yu CC, et al. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. Sci Rep 2015;5:1-6.
2. 2) Manya H, Chiba A, Yosjida A, et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A 2004;101:500-505.
3. 3) Reeuwijk JV, Janssen M, Elzen C, et al. POMT2 mutation cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome. H Med Genet 2005;42:907-912.
4. 4) Godfrey C, Clement E, Mein R, et al. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130:2725-2735.
5. 5) Biaccheri R, Falace A, Tessa A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biopys Res Commun 2007;363:1033-1037.
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1. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12
2. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients;Brain and Development;2023-05
3. Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy;International Journal of Developmental Neuroscience;2022-11-07
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