Nemaline Myopathy 10

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OMIM 57 616165 Disease Ontology 12 DOID:0110931 MedGen 42 C4015360 CN224985

MeSH 44 D017696 SNOMED-CT via HPO 69 258211005 16110005 398432008 276369006 86203003 282020008 367494004 49550006 111246005 77016009 74035001 193093009 95666008 more UMLS 73 C4015360

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as nem10, and has symptoms including ophthalmoplegia, facial paresis and generalized muscle weakness. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle, 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 : ⁵⁷ 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). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (616165)

Clinical features from OMIM:

616165

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