Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

ABSTRACT:

Background

The phenotypic spectrum of Fukutin-related protein (FKRP) mutations is highly variable and comprises of limb girdle muscular dystrophy (LGMD) R9 (previously LGMD 2I) and FKRP related congenital muscular dystrophies.

Objective

To identify the distinct genotype phenotype pattern in Indian patients with FKRP gene mutations.

Methods

We retrospectively reviewed the case files of patients with muscular dystrophy having a genetically confirmed FKRP mutation. All patients had undergone genetic testing using next-generation sequencing.

Results

Our patients included five males and four females presenting between 1.5 years and seven years of age (median age - 3 years). The initial symptom was a delayed acquisition of gross motor developmental milestones in seve

SUBMITTER: Unnikrishnan G 

PROVIDER: S-EPMC10357142 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature