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Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

J Neuromuscul Dis, Pages 1-23, 2024

PMID: 38968056

This study describes the clinical and histopathological characteristics of genetically confirmed congenital myopathies (CMs) in India, aiming to establish phenotype-genotype correlations. A retrospective chart review of patients from January 2016 to December 2020 was conducted, involving 31 unrelated patients (14 males, 17 females) with a median age at onset of 2.0 years and illness duration of 6.0 years. Clinical features included proximodistal weakness (54.8%), facial weakness (64.5%), myopathic facies (54.8%), ptosis (33.3%), and ophthalmoplegia (19.4%). Muscle histopathology, available for 38.7%, most frequently showed centronuclear myopathy. Pathogenic genetic variants were identified in RYR1 (29.0%), DNM2 (19.4%), SELENON (12.9%), KBTBD13 (9.7%), NEB (6.5%), and MYPN (6.5%), with novel mutations in 30.3% of the cohort. Follow-up data for 77.4% showed a median duration of 4.5 years and age of 13 years at last follow-up, with most patients ambulant with minimal assistance. Mortality was 8.3%, mainly due to respiratory failure in centronuclear myopathy 1 and congenital myopathy 3 with rigid spines (SELENON).

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