Phenotype #0000158892

Individual ID	00210326
Associated disease	MFM
Phenotype details	generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles; no raised CPK level (-HP:0003236) normal
Diagnosis/Initial	myotilinopathy
Inheritance	Familial
Diagnosis/Definite	MFM-3
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2009-12-31 16:05:02 +01:00 (CET)
Date last edited	2012-03-04 15:57:47 +01:00 (CET)

Global Variome shared LOVD