Nemaline Myopathy 2 (NEM2)

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OMIM 57 256030 Disease Ontology 12 DOID:0110928 MedGen 42 C1850569 CN187052

MeSH 44 D017696 SNOMED-CT via HPO 69 258211005 63567004 87979003 27272007 95515009 19416009 371405004 371409005 405946002 398432008 349006 37280007 205294008 203598005 385522000 55033002 57048009 7890003 88565003 276369006 86203003 288939007 40739000 26432009 1023001 248583008 271706000 282145008 111266001 64217002 111246005 77016009 249710008 61960001 713514005 249939004 193093009 95666008 78164000 253096008 73676002 more UMLS 73 C1850569

OMIM : ⁵⁷ Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006). (256030)

MalaCards based summary : Nemaline Myopathy 2, also known as nemaline myopathy 2, autosomal recessive, is related to myopathy and nemaline myopathy, and has symptoms including generalized muscle weakness, waddling gait and facial paresis. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include skeletal muscle, bone and eye, and related phenotypes are low-set ears and high palate

Disease Ontology : ¹² A nemaline myopathy that has material basis in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

UniProtKB/Swiss-Prot : ⁷⁵ Nemaline myopathy 2: A 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.

Wikipedia : ⁷⁶ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Clinical features from OMIM:

256030

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 2

Search GEO for disease gene expression data for Nemaline Myopathy 2.