Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families-Reference-Cited by-同舟云学术

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Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

Published:1998-01 Issue:5 Volume:2 Page:255-261
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Melis MA,Cau M,Muntoni F,Mateddu A,Galanello R,Boccone L,Deidda F,Loi D,Cao A

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference34 articles.

1. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affectedindividuals;Koenig;Cell,1987

2. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion;Koenig;Am J Hum Genet,1989

3. The structural and functional diversity of dystrophin;Ahn;Nature Genet,1993

4. Integrated study of 100 patients with Wp 21-linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data.Part 2: Correlation within individual patients;Nicholson;J Med Genet,1993

5. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies;Forrest;Genomics,1988

Cited by 58 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48;American Journal of Medical Genetics Part A;2024-08-19

2. DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis;Frontiers in Neurology;2024-01-15

3. Evaluation of Cardiac, Autonomic Functions in Ambulant Patients with Duchenne Muscular Dystrophy;SN Comprehensive Clinical Medicine;2023-05-05

4. Development and Validation of an Outpatient Clinical Predictive Score for the Diagnosis of Duchenne Muscular Dystrophy/Becker Muscular Dystrophy in Children Aged 2–18 Years;Annals of Indian Academy of Neurology;2023

5. Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review;Journal of Clinical Neuromuscular Disease;2022-12

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