Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Research Abstract Details 

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Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Abstract Text:

S Fujimoto,T Ishikawa,M Saito,Y Wada,I Wada,K Arahata,I Nonaka,S Fujimoto,T Ishikawa,M Saito,Y Wada,I Wada,K Arahata,I Nonaka,

A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years. Muscle computed tomography scanning revealed changes characteristic of muscle involvement. Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient. These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Publishing Authors By Initials

S Fujimoto,T Ishikawa,M Saito,Y Wada,I Wada,K Arahata,I Nonaka,S Fujimoto,T Ishikawa,M Saito,Y Wada,I Wada,K Arahata,I Nonaka,

For similar cells: cellular structures: chromosomes: sex chromosomes: x chromosome research abstracts see: cells: cellular structures: chromosomes: sex chromosomes: x chromosome research

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Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 30

Page Numbers: 161-3

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Jun

YEAR: 1999

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Keywords Mesh Terms:

KEYWORDS: X Chromosome

MESH TERMS: genetics

Chemical & Substance for Abstract: Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Information

Substance Name: emerin

Registry Number: 0

Grant and Affiliation Information for Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.

AFFILIATION: Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.

Country: GERMANY

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MEDLINETA: Neuropediatrics

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