Nemaline Myopathy 7

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OMIM 57 610687 Disease Ontology 12 DOID:0110934 MedGen 42 C1853154

MeSH 44 D017696 SNOMED-CT via HPO 69 258211005 27272007 398151007 398152000 349006 37280007 22325002 26544005 298181000 430099007 298294005 85905009 more UMLS 73 C1853154

OMIM : ⁵⁷ Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (610687)

MalaCards based summary : Nemaline Myopathy 7, is also known as nemaline myopathy 7, autosomal recessive. An important gene associated with Nemaline Myopathy 7 is CFL2 (Cofilin 2). Related phenotypes are high palate and muscular hypotonia

Disease Ontology : ¹² A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has material basis in homozygous mutation in the CFL2 gene on chromosome 14q13.

UniProtKB/Swiss-Prot : ⁷⁵ Nemaline myopathy 7: 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. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.

Clinical features from OMIM:

610687

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Search GEO for disease gene expression data for Nemaline Myopathy 7.