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Research article

First published 2021

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

Pankaj Pathak, Mehar Chand Sharma, Pankaj Jha [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-9

Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related

Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-01-02

Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9

Synnøve M. Jensen, Oddgeir Friborg, Svein Ivar Mellgren [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2024-03-05

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation

Qi L. Lu, Molly C. Holbrook, Marcela P. Cataldi [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-9

A prospective observational study assessing the functional disease progression of LGMDR4,betasarcoglycan-related limb girdle muscular dystrophy

Megan A Iammarino, Natalie F Reash, Kiana Shannon [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2025-9

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features,diagnostic approaches,and biotechnological treatment methods

Sergey N. Bardakov, Irina Sorochanu, Lilit A. Mkrtchyan [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2022

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

Ivana F. Audhya, Antoinette Cheung, Shelagh M. Szabo [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2021-03-02

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey

L. ten Dam, M. de Visser, Ieke B. Ginjaar [...]

Journal of Neuromuscular Diseases

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