Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

IF 1.8 4区医学 Q3 CLINICAL NEUROLOGY

Annals of Indian Academy of Neurology Pub Date : 2025-09-03 DOI:10.4103/aian.aian_146_25

Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan

引用次数: 0

Abstract

Abstract: Bethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of calf hypertrophy who tested positive for a novel genetic variant in the COL6A1 gene.

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扩大Bethlem肌病的临床遗传学范围：来自喀拉拉邦的一个五口患者家庭。

摘要：Bethlem myopathy （BM）是一种表型较轻的vi型胶原相关肌病。我们报告了一位年轻的男性，他有明显的家族史，表现为进行性近端肌病，远端关节挛缩和小腿肥大的独特表现，他在COL6A1基因的一种新的遗传变异中检测呈阳性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Indian Academy of Neurology Nervous System Diseases-

CiteScore

2.20

自引率

11.80%

发文量

293

审稿时长

29 weeks

期刊介绍： The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.