Nemaline Myopathy 9 (NEM9)

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OMIM 57 615731 Disease Ontology 12 DOID:0110929 MedGen 42 C3810384 CN185876

MeSH 44 D017696 SNOMED-CT via HPO 69 258211005 63567004 87979003 27272007 32958008 249671009 26544005 249101006 6096002 401138005 409623005 111266001 64217002 111246005 77016009 more UMLS 73 C3810384

OMIM : ⁵⁷ Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (615731)

MalaCards based summary : Nemaline Myopathy 9, is also known as nem9, and has symptoms including muscle weakness An important gene associated with Nemaline Myopathy 9 is KLHL41 (Kelch Like Family Member 41). Affiliated tissues include bone, and related phenotypes are high palate and muscle weakness

Disease Ontology : ¹² A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.

UniProtKB/Swiss-Prot : ⁷⁵ Nemaline myopathy 9: An autosomal recessive 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. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood.

Clinical features from OMIM:

615731

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 9

Search GEO for disease gene expression data for Nemaline Myopathy 9.