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BMC Musculoskeletal Disorders

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Open Access 01-12-2020 | Muscular Dystrophy | Case report

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Authors: Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang

Published in: BMC Musculoskeletal Disorders | Issue 1/2020

Abstract

Background

Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes. The present study reported a patient with a novel homozygous TOR1AIP1 mutation that presented with selective muscle weakness, which further expanded the phenotype of LGMD2Y- and TOR1AIP1-associated nuclear envelopathies.

Case presentation

A 40-year-old male presented with Achilles tendon contracture and muscle weakness that bothered him from 8 years old. While the strength of his distal and proximal upper limbs was severely impaired, the function of his lower limbs was relatively spared. Muscle pathology showed dystrophic features, and electron microscopy showed ultrastructural abnormalities of disrupted muscle nuclei envelopes. Whole-exome sequencing showed a frameshift mutation in TOR1AIP1 (c.98dupC).

Conclusion

We reported a novel mild phenotype of LGMD2Y with relatively selective distal upper limb weakness and joint contracture and revealed the heterogeneity of LGDM2Y and the role of the LAP1 isoform by literature review.

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Title: Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review
Authors: Xuelin Feng
Jinlang Wu
Wenbiao Xian
Bing Liao
Songjie Liao
Xiaoli Yao
Weixi Zhang
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Muscular Dystrophy
Muscular Dystrophy
Published in: BMC Musculoskeletal Disorders / Issue 1/2020
Electronic ISSN: 1471-2474
DOI: https://doi.org/10.1186/s12891-020-03616-4

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Abstract

Background

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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