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Article

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

Brain & development - 1 Jun 2009

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 18804929
DOI: 10.1016/j.braindev.2008.08.005
PMCID: PMC2702532

Genes

POMT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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