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The mildest known case of Fukuyama-type congenital muscular dystrophy.

Brain & development - 1 Sept 2006

Akiyama Tomoyuki, Ohtsuka Yoko, Takata Tsutomu, Hattori Junri, Kawakita Yukiko, Saito Kayoko

Abstract excerpt

We present a 14-year-old boy with Fukuyama-type congenital muscular dystrophy (FCMD) who shows the mildest muscle weakness ever reported with this affliction and exceptionally mild mental retardation, but who has intractable epilepsy. Magnetic resonance imaging showed the typical abnormalities of FCMD. Molecular genetic analyses revealed a 3 kb insertion mutation in the fukutin gene heterozygously. We could find...

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Identifiers

PMID: 16603329
DOI: 10.1016/j.braindev.2006.02.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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