Phenotype #0000153648

Individual ID 00205471
Associated disease MD
Phenotype details EMG normal; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 1300
Diagnosis/Initial muscular dystrophy, Becker (BMD);XMPMA
Inheritance Familial
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 35y
Phenotype/Onset -
Protein WB FHL1 near absent
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-09-11 20:47:21 +02:00 (CEST)
Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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