Phenotype #0000158887

Individual ID	00210321
Associated disease	MFM
Phenotype details	67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2ñ3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; no raised CPK level (-HP:0003236) normal
Diagnosis/Initial	myotilinopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MFM-3
Age/Examination	-
Age/Onset	59y
Phenotype/Onset	foot drop
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	2012-03-09 19:08:25 +01:00 (CET)