POMT2 Antibody

1. Muscle biopsy revealed absent alpha-dystroglycan on immunostaining and genetic testing confirmed the diagnosis with two previously described POMT2 mutations. This is the first reported case of WWS syndrome associated with noncompaction cardiomyopathy PMID: 28980384
2. POMT2 missense mutation is associated with Cystic kidneys in fetal Walker-Warburg syndrome. PMID: 28815891
3. Our report is the first to document an association between POMT2 mutations and aortopathy with concomitant depressed left ventricular systolic function. PMID: 24002165
4. molecular cloning and characterization PMID: 12460945
5. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome [case reports] PMID: 15894594
6. Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement. PMID: 17634419
7. identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype PMID: 17923109
8. testis POMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from somatic POMT2 PMID: 18490429
9. In pomt2 mutation in CMD patient(three out of 5) show cerebellar hypoplasia. PMID: 18513969
10. Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. PMID: 18804929
11. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported. PMID: 19138766

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HGNC: 19743

OMIM: 607439

KEGG: hsa:29954

STRING: 9606.ENSP00000261534

UniGene: Hs.132989