An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement-Reference-Cited by-同舟云学术

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An unusual presentation of Muscle–Eye–Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Published:2009-10 Issue:10 Volume:19 Page:692-695
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Demir Ercan,Gucuyener Kivilcım,Akturk Aysima,Talim Beril,Konus Oznur,Del Bo Roberto,Ghezzi Serena,Comi Giacomo P.

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Jimenez-Mallebrera C, Torelli S, Feng L, et al. A comparative study of alpha-Dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2008. [Epub ahead of print].

2. The congenital muscular dystrophies in 2004: a century of exciting progress;Muntoni;Neuromuscul Disord,2004

3. Lissencephaly type II;Topaloğlu;Handb Clin Neurol,2007

4. Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease;Taniguchi;Hum Mol Genet,2003

5. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease;Hehr;Neurogenetics,2007

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1. Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method;Global Medical Genetics;2022-07-15

2. Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review;Journal of Inherited Metabolic Disease;2019-01

3. Clinical, Radiological, and Genetic Survey of Patients With Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1;Pediatric Neurology;2014-05

4. Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease;Journal of Child Neurology;2013-11-25

5. Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients;Molecular Genetics and Genomics;2013-05-21

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