Work

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

Year: 2025

Type: article

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.

Source: Annals of Indian Academy of Neurology

DOI: 10.4103/aian.aian_146_25

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

Institution: Jawaharlal Institute of Post Graduate Medical Education and Research

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413950348

FWCI:

Cites: 15

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Related to: 10