POMT2 mutation in a patient with ‘MEB-like’ phenotype-Reference-Cited by-同舟云学术

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POMT2 mutation in a patient with ‘MEB-like’ phenotype

Published:2006-07 Issue:7 Volume:16 Page:446-448
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Mercuri E.,D'Amico A.,Tessa A.,Berardinelli A.,Pane M.,Messina S.,van Reeuwijk J.,Bertini E.,Muntoni F.,Santorelli F.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Mutations in the O-mannosyl-transferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome;Beltran-Valero de Bernabe;Am J Hum Genet,2002

2. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene;Balci;Neuromuscul Disord,2005

3. Phenotypic spectrum associated with mutations in the fukutin-related protein gene;Mercuri;Ann Neurol,2003

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

5. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome;Villanova;Neuromuscul Disord,2000

Cited by 40 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. 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

3. Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family;Diagnostics;2020-09-24

4. Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene;Intractable & Rare Diseases Research;2020-05-31

5. A homozygous mutation in POMT2 gene in four siblings with limb girdle muscular dystrophy 2N;Türk Pediatri Arşivi;2020

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