Abstract
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 no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of α-dystroglycan, such as Fukutin-related protein and LARGE genes.
| Original language | English |
|---|---|
| Pages (from-to) | 537-540 |
| Number of pages | 4 |
| Journal | Brain and Development |
| Volume | 28 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Sep 2006 |
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Keywords
- Brain malformation
- Clinical spectrum
- Epilepsy
- Fukuyama-type congenital muscular dystrophy
- Molecular genetic analysis
- West syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Neurology
Cite this
The mildest known case of Fukuyama-type congenital muscular dystrophy. / Akiyama, Tomoyuki; Ohtsuka, Yoko; Takata, Tsutomu; Hattori, Junri; Kawakita, Yukiko; Saito, Kayoko.
In: Brain and Development, Vol. 28, No. 8, 09.2006, p. 537-540.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The mildest known case of Fukuyama-type congenital muscular dystrophy
AU - Akiyama, Tomoyuki
AU - Ohtsuka, Yoko
AU - Takata, Tsutomu
AU - Hattori, Junri
AU - Kawakita, Yukiko
AU - Saito, Kayoko
PY - 2006/9
Y1 - 2006/9
N2 - 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 no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of α-dystroglycan, such as Fukutin-related protein and LARGE genes.
AB - 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 no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of α-dystroglycan, such as Fukutin-related protein and LARGE genes.
KW - Brain malformation
KW - Clinical spectrum
KW - Epilepsy
KW - Fukuyama-type congenital muscular dystrophy
KW - Molecular genetic analysis
KW - West syndrome
UR - http://www.scopus.com/inward/record.url?scp=33745875304&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745875304&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2006.02.003
DO - 10.1016/j.braindev.2006.02.003
M3 - Article
C2 - 16603329
AN - SCOPUS:33745875304
VL - 28
SP - 537
EP - 540
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 8
ER -