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nemaline myopathy 5 | RareConnect | RareConnect.io

/nemaline myopathy

/nemaline myopathy 5

nemaline myopathy 5

Rare Disease

MONDO:0011539

Also Known As

ANMAmish nemaline myopathyNEM5TNNT1 nemaline myopathynemaline myopathy 5nemaline myopathy 5, Amish typenemaline myopathy caused by mutation in TNNT1nemaline myopathy type 5nemaline myopathy, Amish typenemaline myopathy, caused by mutation in the troponin t1 gene

Definition

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:605355 ↗

Orphanet

Orphanet:98902 ↗

GARD

Related Diseases

MYPN-related myopathy

MONDO:0015023

severe congenital nemaline myopathy

MONDO:0015735

typical nemaline myopathy

MONDO:0015737

childhood-onset nemaline myopathy

MONDO:0015738

adult-onset nemaline myopathy

MONDO:0015739

nemaline myopathy 5B, autosomal recessive, childhood-onset

MONDO:0957281

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