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

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

doi:10.1016/j.braindev.2008.08.005

Back

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

Journal article

Peer reviewed

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

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

Brain & development (Tokyo. 1979), Vol.31(6), pp.465-468

2009

DOI: 10.1016/j.braindev.2008.08.005

PMCID: PMC2702532

PMID: 18804929

Files and links (1)

url

http://doi.org/10.1016/j.braindev.2008.08.005View

Open Access

Abstract

We report a patient harboring a novel homozygous mutation of c.604T > G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (α-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with α-dystroglycanopathy. Presence of small amounts of partly glycosylated α-DG may have a role in reducing the clinical symptoms of α-dystroglycanopathy.

POMT2

Limb girdle muscular dystrophy

Brain MRI

Congenital muscular dystrophy

α-Dystroglycan

α-Dystroglycanopathy

Details

Title: Subtitle: A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Creators: Terumi Murakami - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Yukiko K Hayashi - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Megumu Ogawa - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Satoru Noguchi - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Kevin P Campbell - Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Internal Medicine, and Neurology, University of Iowa Carver, College of Medicine, Iowa City, IA, USA
Masami Togawa - Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine, Tottori, Japan
Takehiko Inoue - Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine, Tottori, Japan
Akira Oka - Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine, Tottori, Japan
Kousaku Ohno - Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine, Tottori, Japan
Ikuya Nonaka - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Ichizo Nishino - Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan
Resource Type: Journal article
Publication Details: Brain & development (Tokyo. 1979), Vol.31(6), pp.465-468
DOI: 10.1016/j.braindev.2008.08.005
PMID: 18804929
PMCID: PMC2702532
NLM abbreviation: Brain Dev
ISSN: 0387-7604
eISSN: 1872-7131
Publisher: Elsevier B.V
Language: English
Date published: 2009
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984020881402771

Metrics

32 Record Views

11 Times Cited - Web of Science