Document Detail

The mildest known case of Fukuyama-type congenital muscular dystrophy.
MedLine Citation:
PMID:  16603329     Owner:  NLM     Status:  MEDLINE    
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 alpha-dystroglycan, such as Fukutin-related protein and LARGE genes.
Tomoyuki Akiyama; Yoko Ohtsuka; Tsutomu Takata; Junri Hattori; Yukiko Kawakita; Kayoko Saito
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-04-17
Journal Detail:
Title:  Brain & development     Volume:  28     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-07-24     Completed Date:  2006-09-29     Revised Date:  2008-05-06    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  537-40     Citation Subset:  IM    
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
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MeSH Terms
DNA Mutational Analysis / methods
Electroencephalography / methods
Magnetic Resonance Imaging / methods
Membrane Proteins / genetics
Mental Disorders / etiology
Muscle Weakness / etiology
Muscular Dystrophies* / congenital,  genetics,  physiopathology
Reg. No./Substance:
0/FKTN protein, human; 0/Membrane Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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