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Article

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

Journal of neuromuscular diseases - 1 Jan 2021

Pathak Pankaj, Sharma Mehar Chand, Jha Pankaj, Sarkar Chitra, Faruq Mohammed, Jha Prerana, Suri Vaishali, Bhatia Rohit, Singh Sumit, Gulati Sheffali, Husain Mohammad

Abstract excerpt

BACKGROUND: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet unidentified. MATERIAL AND METHODS: We performed bidirectional CAPN3 sequencing in 95 LGMDR1 patient samples...

Topics

Calpain
Genetic Association Studies
Genetic Testing
Humans
India
Muscle Proteins
Muscular Dystrophies, Limb-Girdle
Mutation
Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33337384
DOI: 10.3233/JND-200547

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