Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 09-01-2018

Symbol	SPMM
Location	14q11.2
Name	scapuloperoneal syndrome, myopathic type
Corresponding gene	MYH7
Main clinical features	adult-onset scapuloperoneal myopathy hyperCKemia (elevated serum creatine kinase), proximal and distal myopathy with muscle hypertrophy muscle MRI identified a unique pattern in the posterior compartment of the thigh, characterized by early involvement of the biceps femoris and semimembranosus, with relative sparing of the semitendinosus
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)