ZFIN Human Disease: nemaline myopathy 1

OBO ID: DOID:0110926

Term Name:	nemaline myopathy 1		Search Ontology:
Synonyms:	congenital myopathy 4B NEM1 nemaline myopathy 1, autosomal dominant or recessive
Definition:	A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (3)
References:	MESH:C538348 OMIM:609284
Ontology:	Human Disease ( DOID:0110926 )

Relationships

is a type of:	autosomal recessive disease nemaline myopathy autosomal recessive disease nemaline myopathy Show first 5 Terms
disjoint_from:	nemaline myopathy 3 nemaline myopathy 3 Show first 5 Terms

OTHER nemaline myopathy 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TPM3	tpm3	Congenital myopathy 4B, autosomal recessive	609284

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None