NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

ABSTRACT: Neuromuscular genetic disorders (NMGDs) are genetically and clinically diverse group of inherited diseases that affect approximately 1 in 1,000 people worldwide with a calculated prevalence of 37 per 10,000 in the general population. These disorders arise from a variety of genetic changes such as insertions, deletions, duplications and expansions of repeats in more than 747 nuclear and mitochondrial genes critical for the function of peripheral nerves, motor neurons, neuromuscular junctions or skeletal muscles, leading to progressive weakness and degeneration of muscles. Major subtypes include muscular dystrophies, congenital myopathies, motor neuron diseases, peripheral neuropathies, and mitochondrial myopathies. Clinical presentation of NMGDs is highly variable in the age of onset, sever

SUBMITTER: Manjunath U 

PROVIDER: S-EPMC12623376 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature