Nemaline Myopathy 10 (NEM10)

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Disease Ontology 12 DOID:0110931 OMIM 58 616165 MeSH 45 D017696

MedGen 43 C4015360 CN224985 SNOMED-CT via HPO 70 111246005 16110005 193093009 258211005 276369006 282020008 367494004 398432008 49550006 74035001 77016009 86203003 95666008 more UMLS 74 C4015360

UniProtKB/Swiss-Prot : ⁷⁶ Nemaline myopathy 10: 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.

MalaCards based summary : Nemaline Myopathy 10, also known as nem10, is related to muscle disorders and nemaline myopathy, and has symptoms including generalized muscle weakness, ophthalmoplegia and facial paresis. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle and bone, and related phenotypes are facial palsy and respiratory insufficiency due to muscle weakness

Disease Ontology : ¹² 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.

OMIM : ⁵⁸ Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (616165)

Clinical features from OMIM:

616165

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