Autosomal recessive inheritance of classic Bethlem myopathy-Reference-Cited by-同舟云学术

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Autosomal recessive inheritance of classic Bethlem myopathy

Published:2009-12 Issue:12 Volume:19 Page:813-817
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Foley A. Reghan,Hu Ying,Zou Yaqun,Columbus Alexandra,Shoffner John,Dunn Diane M.,Weiss Robert B.,Bönnemann Carsten G.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. Benign myopathy, with autosomal dominant inheritance: a report on three pedigrees;Bethlem;Brain,1976

2. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families;Merlini;Neuromuscul Disord,1994

3. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures;Jöbsis;Brain,1999

4. Muscle ultrasound in Bethlem myopathy;Bönnemann;Neuropediatrics,2003

5. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy;Mercuri;Neuromuscul Disord,2005

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2. New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients;International Journal of Molecular Sciences;2023-08-05

3. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies;Journal of Neuromuscular Diseases;2021-07-30

4. Causative variant profile of collagen VI-related dystrophy in Japan;Orphanet Journal of Rare Diseases;2021-06-24

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