A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

Naomi Hino-Fukuyo; Kazuhiro Haginoya; Yukiko K. Hayashi; Ichizo Nishino; Terumi Murakami; Ikuya Nonaka; Kaoru Togashi; Souichiro Tanaka; Masaru Takayanagi; Hiroyuki Yokoyama; Osamu Sakamoto; Toshiaki Abe; Tatsushi Toda; Kazuie Iinuma

doi:10.1016/j.nmd.2006.01.011

A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

Naomi Hino-Fukuyo, Kazuhiro Haginoya, Yukiko K. Hayashi, Ichizo Nishino, Terumi Murakami, Ikuya Nonaka, Kaoru Togashi, Souichiro Tanaka, Masaru Takayanagi, Hiroyuki Yokoyama, Osamu Sakamoto, Toshiaki Abe, Tatsushi Toda, Kazuie Iinuma

MED - United Centers for Advanced Research and Translational Medicine (ART)

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.

Original language	English
Pages (from-to)	274-276
Number of pages	3
Journal	Neuromuscular Disorders
Volume	16
Issue number	4
DOIs	https://doi.org/10.1016/j.nmd.2006.01.011
Publication status	Published - 2006 Apr

Keywords

FCMD
Set ERG
Very mild mental deficit
WISC III

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Clinical Neurology
Genetics(clinical)

Access to Document

10.1016/j.nmd.2006.01.011

Cite this

@article{b7c059a7ea0140d5bada541ee23f7d80,

title = "A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit",

abstract = "A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.",

keywords = "FCMD, Set ERG, Very mild mental deficit, WISC III",

author = "Naomi Hino-Fukuyo and Kazuhiro Haginoya and Hayashi, {Yukiko K.} and Ichizo Nishino and Terumi Murakami and Ikuya Nonaka and Kaoru Togashi and Souichiro Tanaka and Masaru Takayanagi and Hiroyuki Yokoyama and Osamu Sakamoto and Toshiaki Abe and Tatsushi Toda and Kazuie Iinuma",

year = "2006",

month = apr,

doi = "10.1016/j.nmd.2006.01.011",

language = "English",

volume = "16",

pages = "274--276",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

number = "4",

}

TY - JOUR

T1 - A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

AU - Hino-Fukuyo, Naomi

AU - Haginoya, Kazuhiro

AU - Hayashi, Yukiko K.

AU - Nishino, Ichizo

AU - Murakami, Terumi

AU - Nonaka, Ikuya

AU - Togashi, Kaoru

AU - Tanaka, Souichiro

AU - Takayanagi, Masaru

AU - Yokoyama, Hiroyuki

AU - Sakamoto, Osamu

AU - Abe, Toshiaki

AU - Toda, Tatsushi

AU - Iinuma, Kazuie

PY - 2006/4

Y1 - 2006/4

N2 - A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.

AB - A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.

KW - FCMD

KW - Set ERG

KW - Very mild mental deficit

KW - WISC III

UR - http://www.scopus.com/inward/record.url?scp=33646474385&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33646474385&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2006.01.011

DO - 10.1016/j.nmd.2006.01.011

M3 - Article

C2 - 16545565

AN - SCOPUS:33646474385

VL - 16

SP - 274

EP - 276

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 4

ER -

A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this