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Nemaline myopathy
rareNemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
- Identifiers
- MONDO:0018958 Orphanet:607
- Also known as
- congenital rod disease · NEM · nemaline body disease · nemaline rod disease · nemaline rod myopathy
Subtypes
Disease Rare Not rare Subtypes
- Childhood-onset nemaline myopathy MONDO:0015738 6
- Typical nemaline myopathy MONDO:0015737 6
- Severe congenital nemaline myopathy MONDO:0015735 5
- MYPN-related myopathy MONDO:0015023 MYPN
- Adult-onset nemaline myopathy MONDO:0015739
- Congenital myopathy 4A, autosomal dominant MONDO:0800341
- Nemaline myopathy 5 MONDO:0011539 TNNT1
- Nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0957281 TNNT1
- Nemaline myopathy 5C, autosomal dominant MONDO:0957284 TNNT1
Projects
Including projects on subtypes.
No projects yet.