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nemaline myopathy 10

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.
Uniprot Description An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.
Disease Ontology Description A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
Mondo Term and Equivalent IDs
MONDO:0014513:  nemaline myopathy 10
UMLS:C4015360: