Nemaline Myopathy 9 (NEM9)

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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) (Updated 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 9, also known as nem9, is related to childhood-onset nemaline myopathy and typical congenital nemaline myopathy, and has symptoms including muscle weakness An important gene associated with Nemaline Myopathy 9 is KLHL41 (Kelch Like Family Member 41). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and high palate

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ 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.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 9