A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI-Reference-Cited by-同舟云学术

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI

Published:2009-06 Issue:6 Volume:31 Page:465-468
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Murakami Terumi,Hayashi Yukiko K.,Ogawa Megumu,Noguchi Satoru,Campbell Kevin P.,Togawa Masami,Inoue Takehiko,Oka Akira,Ohno Kousaku,Nonaka Ikuya,Nishino Ichizo

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG;Kim;Neurology,2004

2. Physical and functional association of human protein O-mannosyltransferases 1 and 2;Akasaka-Manya;J Biol Chem,2006

3. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker–Warburg syndrome;van Reeuwijk;J Med Genet,2005

4. POMT2 mutation in a patient with ‘MEB-like’ phenotype;Mercuri;Neuromuscul Disord,2006

5. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation;Yanagisawa;Neurology,2007

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1. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India;Neurogenetics;2024-08-05

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

4. Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy;Frontiers in Genetics;2021-08-03

5. A Japanese family with POMT2-related limb girdle muscular dystrophy;Rinsho Shinkeigaku;2021