Nemaline Myopathy 8 (NEM8)

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Disease Ontology 12 DOID:0110930 OMIM 56 615348 OMIM Phenotypic Series 56 PS161800 MeSH 43 D017696

MedGen 41 C3809209 CN178405 SNOMED-CT via HPO 68 193093009 203598005 255385008 258211005 288939007 385522000 401138005 40739000 409622000 43994002 55033002 57048009 699269005 7890003 88565003 95666008 more UMLS 71 C3809209

UniProtKB/Swiss-Prot : ⁷³ Nemaline myopathy 8: A 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. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.

MalaCards based summary : Nemaline Myopathy 8, also known as nemaline myopathy 8, autosomal recessive, is related to typical congenital nemaline myopathy and childhood-onset nemaline myopathy. An important gene associated with Nemaline Myopathy 8 is KLHL40 (Kelch Like Family Member 40). Affiliated tissues include skeletal muscle and bone, and related phenotypes are dysphagia and facial palsy

Disease Ontology : ¹² A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has material basis in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.

OMIM : ⁵⁶ Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (615348)

Clinical features from OMIM:

615348

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