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GENATLAS PHENOTYPE

last update : 09-05-2018

Symbol	NEM1
Location	1q21.3
Name	nemaline myopathy 1
Corresponding gene	TPM3
Main clinical features	characterized by infantile onset of a slowly progressive weakness of the facial, bulbar, neck flexor, respiratory and proximal limb muscles with a later distal involvement, arthrogryposis, multiple pterygia associated with the presence of nemaline bodies in the muscle fibers, slow type 1
Genetic determination	autosomal dominant
Related entries	congenital fiber type disproportion often associated in the families of nemaline myopathy (Clarke 2008)
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	alpha tropomyosin 3 (TPM3)

Remark(s)

specifically, the TPM3-R167H mutations decreased cooperative thin filament activation with simultaneous reductions in myosin cross-bridge number and force production (PMID: 22798622))