Phenotype #0000311176

Individual ID	00419907
Associated disease	MYOP
Phenotype details	congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4+; MRC muscle strength upper limbs deltoids 3+, biceps 4-, supinators 4+, triceps 4-, wrist flexors, wrist extensors, digit, flexors and digit extensors 4+, opponens pollicis 5, abductor digiti minimi and flexor digitorum profundus 4; MRC muscle strength lower limbs iliopsoas 3, thigh adductors 4, thigh abductors 4, gluteus maximus 3, quadriceps 4, hamstrings 4+, tibialis anterior 4+, gastrocnemius-soleus 4+, extensor hallucis longus 4+, tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures; forced vital capacity normal; sleep apnoea; no cognitive impairment; psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 22:26:15 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD