Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25-06-2014

Symbol	MFMZ
Location	10q23.2
Name	myofibrillar myopathy ZASP-related
Corresponding gene	LDB3
Main clinical features	onset from 45 to 73 years (mean, 54 years, muscle weakness, palpitations and mildly increased serum creatine kinase; myofibrillar myopathy on skeletal muscle biopsy, including pleomorphic hyaline, granular, and amorphous deposits on trichrome staining electron microscopy showed streaming and disintegration of the Z-disks, as well as degraded and fragmented filaments in autophagic vacuoles
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)