Phenotype #0000125359

Individual ID 00103634
Associated disease MDC
Phenotype details elevated serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), inability to walk (HP:0002540), hyperintensity of cerebral white matter on MRI (HP:0030890), feeding difficulties (HP:0011968), scoliosis (HP:0002650), joint contracture (HP:0001371), respiratory insufficiency due to muscle weakness (HP:0002747)
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset 1m
Protein muscle, IHC for LAMA2, no 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 21:58:42 +02:00 (CEST)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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