Published in

Elsevier, Brain and Development, 6(31), p. 465-468

DOI: 10.1016/j.braindev.2008.08.005

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2008 by Terumi Murakami, Yukiko K. Hayashi, Megumu Ogawa, Satoru Noguchi, Kevin P. Campbell ORCID, Masami Togawa, Takehiko Inoue, Akira Oka, Kousaku Ohno, Ikuya Nonaka, Ichizo Nishino ORCID
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Orange circle
Postprint: archiving restricted
Upload
Red circle
Published version: archiving forbidden
Policy details
Data provided by SHERPA/RoMEO

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 (alpha-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. Presence of small amounts of partly glycosylated alpha-DG may have a role in reducing the clinical symptoms of alpha-dystroglycanopathy.