Details of Disease | DrugMAP

General Information of Disease (ID: DISPZ21Z)

Disease Name	Congenital myopathy 4B, autosomal recessive
Synonyms	nemaline myopathy 1, autosomal dominant or recessive; nemaline myopathy type 1; NEM1; Nem1; nemaline myopathy 1; TPM3 nemaline myopathy; nemaline myopathy caused by mutation in TPM3
Definition	Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.
Disease Hierarchy	DIS5IYLY: Nemaline myopathy DIST7MSL: Childhood-onset nemaline myopathy DISMJ4LI: Intermediate nemaline myopathy DIS1FW68: TPM3-related myopathy DISPZ21Z: Congenital myopathy 4B, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0012239 UMLS CUI C5829889 OMIM ID 609284 MedGen ID 1840525

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TPM3	OT5RU5G6	Strong	Autosomal recessive	[1]
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References

1	Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord. 1999 Dec;9(8):573-9. doi: 10.1016/s0960-8966(99)00053-x.