Phenotype #0000124998

Individual ID 00103327
Associated disease MYOP
Phenotype details Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), calf muscle hypertrophy (HP:0008981), dilated cardiomyopathy (HP:0001644), hyperintensity of cerebral white matter on MRI (HP:0030890)
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 49y (49 years)
Age/Diagnosis -
Age/Onset 06y
Phenotype/Onset Stiff elbow (HP:0025259) and spinal rigidity (HP:0003306)
Protein muscle, IHC for LAMA2, residual expression
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2017-04-14 16:20:43 +02:00 (CEST)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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