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)

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10.1016/j.nmd.2006.01.011

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A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. / Hino-Fukuyo, Naomi; Haginoya, Kazuhiro; Hayashi, Yukiko K.; Nishino, Ichizo; Murakami, Terumi; Nonaka, Ikuya; Togashi, Kaoru; Tanaka, Souichiro; Takayanagi, Masaru; Yokoyama, Hiroyuki; Sakamoto, Osamu; Abe, Toshiaki; Toda, Tatsushi; Iinuma, Kazuie.

In: Neuromuscular Disorders, Vol. 16, No. 4, 04.2006, p. 274-276.

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

Hino-Fukuyo, Naomi ; Haginoya, Kazuhiro ; Hayashi, Yukiko K. ; Nishino, Ichizo ; Murakami, Terumi ; Nonaka, Ikuya ; Togashi, Kaoru ; Tanaka, Souichiro ; Takayanagi, Masaru ; Yokoyama, Hiroyuki ; Sakamoto, Osamu ; Abe, Toshiaki ; Toda, Tatsushi ; Iinuma, Kazuie. / A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. In: Neuromuscular Disorders. 2006 ; Vol. 16, No. 4. pp. 274-276.

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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.",

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

Abstract

Keywords

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