Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

Zanoteli, Edmar; Rocha, José Cláudio; Narumia, L. K.; Fireman, Moacir A.T; Moura, Luciana Monteiro; Oliveira, Acary Souza Bullé; Gabbai, Alberto A.; Fukuda, Yoshimasa; Kinoshita, Moritoshi; Toda, Tatsushi

doi:10.1034/j.1600-0404.2002.01318.x

Cited by 4 publications

(1 citation statement)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Subsequently, abnormal staining of ␣-dystroglycan by the VIA4-1 and/or IIH6 monoclonal antibodies and decreased staining of laminin ␣ 2 -chain were observed in all cases investigated (146,160,161 ). Diagnosis: As the function of fukutin is unknown at present, the diagnosis can be confirmed only at the molecular genetic level (158,162 ).…”

Section: Wws Severe Mutations In the Fcmd Gene Lead To Wws (158 159 )mentioning

confidence: 99%

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

et al. 2006

View full text Add to dashboard Cite

Background: Genetic diseases that affect the biosynthesis of protein O-glycans are a rapidly growing group of disorders. Because this group of disorders does not have a collective name, it is difficult to get an overview of O-glycosylation in relation to human health and disease. Many patients with an unsolved defect in Nglycosylation are found to have an abnormal O-glycosylation as well. It is becoming increasingly evident that the primary defect of these disorders is not necessarily localized in one of the glycan-specific transferases, but can likewise be found in the biosynthesis of nucleotide sugars, their transport to the endoplasmic reticulum (ER)/Golgi, and in Golgi trafficking. Already, disorders in O-glycan biosynthesis form a substantial group of genetic diseases. In view of the number of genes involved in O-glycosylation processes and the increasing scientific interest in congenital disorders of glycosylation, it is expected that the number of identified diseases in this group will grow rapidly over the coming years. Content: We first discuss the biosynthesis of protein O-glycans from their building blocks to their secretion from the Golgi. Subsequently, we review 24 different genetic disorders in O-glycosylation and 10 different genetic disorders that affect both N-and O-glycosylation. The key clinical, metabolic, chemical, diagnostic, and genetic features are described. Additionally, we describe methods that can be used in clinical laboratory screening for protein O-glycosylation biosynthesis defects and their

show abstract

Section: Wws Severe Mutations In the Fcmd Gene Lead To Wws (158 159 )mentioning

confidence: 99%

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

et al. 2006

View full text Add to dashboard Cite

show abstract

Congenital Muscular Dystrophies

2005

Magnetic Resonance of Myelination and Myelin Disorders

View full text Add to dashboard Cite

Análise da expressão do colágeno VI na distrofia muscular congênita

Freitas

Zanoteli

Morita

et al. 2005

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida. A forma de Ullrich é caracterizada por retrações musculares proximais e hiperextensibilidade distal. Cerca de 40% destes pacientes apresentam mutações em um dos genes que codificam as três sub-unidades do colágeno VI (COL6), acarretando deficiência total ou parcial na marcação da proteína. Analisamos, através de imunofluorescência, a marcação do COL6 em fragmentos musculares de 50 pacientes com DMC, 20 deles com ausência da marcação para merosina. Identificamos 4 casos com deficiência total da marcação do COL6 (8% do total), representando 13% dos casos com marcação normal para merosina. As alterações histológicas musculares dos pacientes com COL6 deficiente eram indistinguíveis das outras formas de DMC, porém mais brandas que as observadas na DMC com deficiência de merosina. Em três dos pacientes com COL6 deficiente observou-se hipotonia e fraqueza muscular, notadas já no período neonatal, atraso do desenvolvimento motor, retrações musculares em joelhos e cotovelos, hiperextensibilidade distal e luxação congênita do quadril (dois pacientes). Um paciente perdeu a capacidade para a marcha, e outro faleceu por problemas respiratórios. A análise da marcação do COL6, assim como da merosina, no tecido muscular de pacientes com DMC pode auxiliar na identificação e caracterização fenotípica dos diversos subtipos de DMC.

show abstract

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil

Abstract: This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.

Cited by 4 publications

References 14 publications

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

Congenital Muscular Dystrophies

Análise da expressão do colágeno VI na distrofia muscular congênita

Contact Info

Product

Resources

About